ClinVar Miner

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

dbSNP: rs55889738
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Total submissions: 12
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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: 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
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

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