Submissions for variant NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)

gnomAD frequency: 0.00215  dbSNP: rs137932254

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001083501	SCV000290106	likely benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000710534	SCV000332367	uncertain significance	not provided	2015-06-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000710534	SCV000534306	likely benign	not provided	2021-04-06	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710534	SCV000840774	benign	not provided	2018-08-10	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000276445	SCV000967149	likely benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Ser2814Ser in exon 10 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.25% (167/66098 ) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs137932254).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000276445	SCV001426849	likely benign	not specified	2020-07-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710534	SCV001501284	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	ALMS1: BP4
Baylor Genetics	RCV001083501	SCV001528932	uncertain significance	Alstrom syndrome	2018-09-20	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab	RCV001083501	SCV001781465	likely benign	Alstrom syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444914	SCV002678396	likely benign	Cardiovascular phenotype	2018-12-27	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	RCV001083501	SCV003800266	likely benign	Alstrom syndrome	2023-11-01	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710534	SCV001975932	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001083501	SCV002082909	likely benign	Alstrom syndrome	2019-10-22	no assertion criteria provided	clinical testing