ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)

gnomAD frequency: 0.00001  dbSNP: rs777796888
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499936 SCV000593120 uncertain significance not specified 2017-02-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001364424 SCV001560573 likely benign Alstrom syndrome 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002376917 SCV002687471 likely benign Cardiovascular phenotype 2020-01-02 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Natera, Inc. RCV001364424 SCV002082928 uncertain significance Alstrom syndrome 2021-03-25 no assertion criteria provided clinical testing

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