ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.114C>G (p.Ala38=)

gnomAD frequency: 0.00001  dbSNP: rs756189227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002207942 SCV002379657 likely benign Dyskeratosis congenita, autosomal dominant 6 2022-07-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268608 SCV002551731 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352820 SCV002624612 likely benign Inborn genetic diseases 2019-07-21 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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