ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.846C>T (p.Pro282=)

gnomAD frequency: 0.00015  dbSNP: rs199856965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000892928 SCV001036838 likely benign Dyskeratosis congenita, autosomal dominant 6 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427248 SCV002740318 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465807 SCV002760840 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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