Submissions for variant NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)

dbSNP: rs55889738

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000202933	SCV000051977	benign	not specified	2015-06-23	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202933	SCV000258079	benign	not specified	2015-09-03	criteria provided, single submitter	clinical testing
Invitae	RCV000206303	SCV000262473	benign	Alstrom syndrome	2015-11-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000202933	SCV000312406	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000202933	SCV000344215	likely benign	not specified	2016-08-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000206303	SCV000431897	uncertain significance	Alstrom syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000206303	SCV000431899	uncertain significance	Alstrom syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000206303	SCV000431900	uncertain significance	Alstrom syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000206303	SCV000431901	uncertain significance	Alstrom syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000206303	SCV000431902	uncertain significance	Alstrom syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001573683	SCV001872555	benign	not provided	2016-10-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372192	SCV002673412	benign	Cardiovascular phenotype	2018-11-19	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	RCV000206303	SCV000734227	benign	Alstrom syndrome		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573683	SCV001799920	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000202933	SCV001930009	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000202933	SCV001958744	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000202933	SCV001970250	benign	not specified		no assertion criteria provided	clinical testing