ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=)

gnomAD frequency: 0.00006  dbSNP: rs370981817
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000870687 SCV001012216 likely benign Alstrom syndrome 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346002 SCV002651087 likely benign Cardiovascular phenotype 2019-03-12 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 RCV000870687 SCV002801940 likely benign Alstrom syndrome 2021-07-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000870687 SCV001455029 likely benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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