Submissions for variant NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=)

gnomAD frequency: 0.00014  dbSNP: rs373013570

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001697496	SCV000720140	likely benign	not provided	2021-04-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000864766	SCV001005619	likely benign	Alstrom syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002384334	SCV002694173	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: 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.
Fulgent Genetics, Fulgent Genetics	RCV000864766	SCV002801771	likely benign	Alstrom syndrome	2021-11-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000864766	SCV003799826	likely benign	Alstrom syndrome	2022-03-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330824	SCV004038197	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001697496	SCV004155001	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BP7