Submissions for variant NM_001386125.1(OBSCN):c.3546C>T (p.Ala1182=)

gnomAD frequency: 0.00121  dbSNP: rs147753732

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000952817	SCV001099348	likely benign	not provided	2018-06-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004029843	SCV002611919	likely benign	not specified	2022-03-09	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.
CeGaT Center for Human Genetics Tuebingen	RCV000952817	SCV004125787	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	OBSCN: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003960643	SCV004772237	likely benign	OBSCN-related disorder	2019-12-16	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).