ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10038C>T (p.Ser3346=)

gnomAD frequency: 0.00004  dbSNP: rs375436336
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555974 SCV000631749 likely benign Alstrom syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001580510 SCV001817586 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404403 SCV002704531 likely benign Cardiovascular phenotype 2020-08-21 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. RCV000555974 SCV001459596 likely benign Alstrom syndrome 2019-10-28 no assertion criteria provided clinical testing

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