ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del)

dbSNP: rs55889738
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596710 SCV000705440 likely benign not specified 2017-02-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000596710 SCV000864079 likely benign not specified 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV001572971 SCV001905203 benign not provided 2017-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365586 SCV002657229 benign Cardiovascular phenotype 2019-10-11 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 RCV000460595 SCV003800024 benign Alstrom syndrome 2024-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000460595 SCV004672720 benign Alstrom syndrome 2025-02-04 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572971 SCV001798158 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000596710 SCV001920247 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000596710 SCV001933007 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001572971 SCV001957184 likely benign not provided no assertion criteria provided clinical testing

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