Submissions for variant NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln)

gnomAD frequency: 0.00377  dbSNP: rs35051736

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	RCV000785822	SCV000924394	uncertain significance	not provided	2017-01-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000785822	SCV001012458	likely benign	not provided	2024-01-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001137817	SCV001297799	likely benign	Hypercalcemia, infantile, 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000785822	SCV002496684	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	CYP24A1: PM5, BP4, BS2
GeneDx	RCV000785822	SCV002504201	likely benign	not provided	2020-01-27	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences	RCV003918265	SCV004734790	likely benign	CYP24A1-related disorder	2020-03-03	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).