Submissions for variant NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)

dbSNP: rs55889738

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173445	SCV000224560	benign	not specified	2014-10-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000206622	SCV000431895	uncertain significance	Alstrom syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224588	SCV000610356	likely benign	not provided	2017-04-27	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000206622	SCV000784342	benign	Alstrom syndrome	2018-03-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000224588	SCV001811000	likely benign	not provided	2021-07-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372082	SCV002668158	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: 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	RCV000206622	SCV004563174	likely benign	Alstrom syndrome	2023-09-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224588	SCV004811135	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ALMS1: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224588	SCV001800561	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000173445	SCV001920396	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000224588	SCV001966466	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000224588	SCV002034039	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000206622	SCV002080368	benign	Alstrom syndrome	2019-11-01	no assertion criteria provided	clinical testing