Submissions for variant NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=)

gnomAD frequency: 0.00016  dbSNP: rs370508895

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001697482	SCV000720139	likely benign	not provided	2021-04-09	criteria provided, single submitter	clinical testing
Invitae	RCV000634826	SCV000756170	likely benign	Alstrom syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002331047	SCV002629429	likely benign	Cardiovascular phenotype	2020-10-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000634826	SCV003800079	likely benign	Alstrom syndrome	2022-03-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330823	SCV004038192	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001697482	SCV004154989	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BP7