ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.801C>T (p.Ala267=)

gnomAD frequency: 0.00530  dbSNP: rs72549181
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652839 SCV000774711 benign Dyskeratosis congenita, autosomal dominant 6 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397314 SCV002714333 likely benign Inborn genetic diseases 2022-02-12 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.
PreventionGenetics, part of Exact Sciences RCV003945674 SCV004767434 benign ACD-related disorder 2019-07-31 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596319 SCV005090222 benign not specified 2024-07-31 criteria provided, single submitter clinical testing

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