ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=)

gnomAD frequency: 0.00002  dbSNP: rs202036843
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670439 SCV000795291 uncertain significance Alstrom syndrome 2017-11-02 criteria provided, single submitter clinical testing
Invitae RCV000670439 SCV001688102 likely benign Alstrom syndrome 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397353 SCV002707228 likely benign Cardiovascular phenotype 2020-09-06 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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