ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=)

gnomAD frequency: 0.00002  dbSNP: rs373831151
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001485111 SCV001689539 likely benign Alstrom syndrome 2021-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000542083 SCV001823786 likely benign not provided 2020-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413479 SCV002717372 likely benign Cardiovascular phenotype 2019-12-13 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.
Fulgent Genetics, Fulgent Genetics RCV001485111 SCV002804726 likely benign Alstrom syndrome 2021-11-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001485111 SCV002080434 likely benign Alstrom syndrome 2021-09-14 no assertion criteria provided clinical testing

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