ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1314C>T (p.Leu438=)

gnomAD frequency: 0.00002  dbSNP: rs528476326
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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 RCV001456396 SCV001660175 likely benign Dyskeratosis congenita, autosomal dominant 6 2022-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405074 SCV002704083 likely benign Inborn genetic diseases 2022-04-08 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.
PreventionGenetics, part of Exact Sciences RCV003900568 SCV004714865 likely benign ACD-related disorder 2021-05-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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