ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7917T>C (p.His2639=)

gnomAD frequency: 0.00001  dbSNP: rs1672938733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001482920 SCV001687300 likely benign Alstrom syndrome 2023-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002421105 SCV002677290 likely benign Cardiovascular phenotype 2020-12-16 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331166 SCV004038202 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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