ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.819C>T (p.Pro273=)

gnomAD frequency: 0.00251  dbSNP: rs138740815
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652837 SCV000774709 benign Dyskeratosis congenita, autosomal dominant 6 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816640 SCV002065048 likely benign not specified 2019-01-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000652837 SCV002524365 benign Dyskeratosis congenita, autosomal dominant 6 2021-12-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001816640 SCV002551716 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422415 SCV002724770 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.

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