Submissions for variant NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)

gnomAD frequency: 0.00037  dbSNP: rs138596741

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000513426	SCV000341051	uncertain significance	not provided	2017-09-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513426	SCV000609023	likely benign	not provided	2021-07-01	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625221	SCV000744174	likely benign	Cholestanol storage disease	2017-06-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625221	SCV001051714	benign	Cholestanol storage disease	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000513426	SCV001783758	likely benign	not provided	2021-03-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392807	SCV002699745	likely benign	Cardiovascular phenotype	2022-06-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV000625221	SCV001462726	likely benign	Cholestanol storage disease	2019-12-23	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001706418	SCV001921025	benign	not specified		no assertion criteria provided	clinical testing