Submissions for variant NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro)

dbSNP: rs34628045

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205185	SCV000262472	benign	Alstrom syndrome	2015-11-12	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000602032	SCV000711904	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Ser524_Leu525insPro in exon 8 of ALMS1: This variant is not expected to have c linical significance because it has been identified in 77.61% (6676/8602) of Eas t Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs587621330).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000602032	SCV000864126	benign	not specified	2013-03-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399768	SCV002710029	benign	Cardiovascular phenotype	2018-12-21	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000602032	SCV001740707	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000602032	SCV001924355	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000602032	SCV001926421	benign	not specified		no assertion criteria provided	clinical testing