ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.405G>A (p.Val135=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003093201 SCV003482874 likely benign Dyskeratosis congenita, autosomal dominant 6 2023-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294509 SCV003999900 likely benign Inborn genetic diseases 2023-04-16 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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