ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9767C>G (p.Ser3256Cys)

dbSNP: rs200922218
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697893 SCV000723297 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23847139)
Labcorp Genetics (formerly Invitae), Labcorp RCV000866862 SCV001008017 benign Alstrom syndrome 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160106 SCV003856802 benign Cardiovascular phenotype 2023-01-27 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.
CeGaT Center for Human Genetics Tuebingen RCV001697893 SCV004700761 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ALMS1: BP4, BS2

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