ClinVar Miner

Submissions for variant NM_001082486.1(ACD):c.183T>C (p.Pro61=)

dbSNP: rs2052981802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001467322 SCV001671346 likely benign Dyskeratosis congenita, autosomal dominant 6 2019-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002414122 SCV002712620 likely benign Inborn genetic diseases 2020-06-02 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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