ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1336C>T (p.Leu446=)

gnomAD frequency: 0.00188  dbSNP: rs1050346
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502678 SCV000593010 likely benign not specified 2016-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000967299 SCV001114678 benign Dyskeratosis congenita, autosomal dominant 6 2023-12-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000967299 SCV002524359 benign Dyskeratosis congenita, autosomal dominant 6 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404308 SCV002705761 likely benign Inborn genetic diseases 2022-02-13 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 RCV003942619 SCV004762313 likely benign ACD-related disorder 2022-11-04 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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