ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=)

gnomAD frequency: 0.00002  dbSNP: rs745503022
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869602 SCV001011042 likely benign Alstrom syndrome 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169159 SCV003857300 likely benign Cardiovascular phenotype 2023-02-11 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.
Natera, Inc. RCV000869602 SCV001453446 uncertain significance Alstrom syndrome 2020-02-13 no assertion criteria provided clinical testing

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