ClinVar Miner

Submissions for variant NM_001082486.1(ACD):c.162C>T (p.Pro54=)

gnomAD frequency: 0.00544  dbSNP: rs73597595
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556688 SCV000656043 benign Dyskeratosis congenita, autosomal dominant 6 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001692199 SCV001909148 benign not provided 2020-06-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821641 SCV002064784 benign not specified 2018-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404558 SCV002708705 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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