ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2370T>G (p.Val790=)

gnomAD frequency: 0.00004  dbSNP: rs370372529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001406360 SCV001608311 likely benign Alstrom syndrome 2023-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456644 SCV002736978 likely benign Cardiovascular phenotype 2022-02-08 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.

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