Submissions for variant NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)

gnomAD frequency: 0.00066  dbSNP: rs200491758

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000727438	SCV000535897	likely benign	not provided	2020-06-05	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727438	SCV000708540	uncertain significance	not provided	2017-05-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080209	SCV000756163	benign	Alstrom syndrome	2025-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002329000	SCV002627202	likely benign	Cardiovascular phenotype	2020-02-11	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001080209	SCV005879106	likely benign	Alstrom syndrome	2023-12-14	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001080209	SCV001453453	likely benign	Alstrom syndrome	2020-01-01	no assertion criteria provided	clinical testing