Submissions for variant NM_001378454.1(ALMS1):c.8779C>A (p.Arg2927=)

gnomAD frequency: 0.00019  dbSNP: rs376244626

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001697878	SCV000722235	likely benign	not provided	2020-08-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000863292	SCV001003928	likely benign	Alstrom syndrome	2025-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000606582	SCV001478706	likely benign	not specified	2021-01-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000606582	SCV002070211	likely benign	not specified	2021-07-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002377276	SCV002687260	likely benign	Cardiovascular phenotype	2019-05-25	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.