Submissions for variant NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)

gnomAD frequency: 0.00119  dbSNP: rs183390773

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227051	SCV000290110	benign	Alstrom syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001697682	SCV000532479	likely benign	not provided	2021-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000227051	SCV002049124	likely benign	Alstrom syndrome	2021-05-22	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000422165	SCV002070949	likely benign	not specified	2018-07-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374375	SCV002686956	likely benign	Cardiovascular phenotype	2019-01-09	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.
CeGaT Center for Human Genetics Tuebingen	RCV001697682	SCV004154981	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000422165	SCV004241144	likely benign	not specified	2023-12-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000422165	SCV001917986	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001697682	SCV001927305	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001697682	SCV001964392	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000227051	SCV002080395	likely benign	Alstrom syndrome	2019-12-05	no assertion criteria provided	clinical testing