ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=)

gnomAD frequency: 0.00001  dbSNP: rs747747269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300719 SCV001489868 likely benign Alstrom syndrome 2024-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451668 SCV002739956 likely benign Cardiovascular phenotype 2019-11-11 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. RCV001300719 SCV002078996 uncertain significance Alstrom syndrome 2021-09-15 no assertion criteria provided clinical testing

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