ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11379T>C (p.Ala3793=)

gnomAD frequency: 0.00016  dbSNP: rs377090880
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719065 SCV000728362 likely benign not provided 2019-12-03 criteria provided, single submitter clinical testing
Invitae RCV001395306 SCV001597012 likely benign Alstrom syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325181 SCV002607295 likely benign Cardiovascular phenotype 2019-12-19 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.
Fulgent Genetics, Fulgent Genetics RCV001395306 SCV002800966 likely benign Alstrom syndrome 2021-11-18 criteria provided, single submitter clinical testing

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