Table 2.

Summary of patients with inconclusive results (n=3)

PatientFamily HistoryCost to Patient, $GeneTranscriptGenomic Coordinates (GRCh37)ZygosityDNA ChangeProtein ChangeClassification
10Multiple0CACNA1DNM_000720.23:53762060HETc.3914C>Tp.A1305VVUS
11Yes0CYP24A1NM_000782.420:52790103HETc.18_21dupCAAGp.S8QfsX99Likely Pathogenic
12Yes300NPHS2NM_014625.31:179526214HETc.686G>Ap.R229QVUS
  • Cost is in US dollars. HET, heterozygous; VUS, Variant of uncertain significance.