ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.186C>T (p.Asp62=)

gnomAD frequency: 0.00001  dbSNP: rs998982026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001454213 SCV001657933 likely benign Dyskeratosis congenita, autosomal dominant 6 2020-09-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818839 SCV002070023 likely benign not specified 2020-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332874 SCV002638419 likely benign Inborn genetic diseases 2022-04-30 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.

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