ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1017C>T (p.Ser339=)

gnomAD frequency: 0.00003  dbSNP: rs769298187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001469779 SCV001673867 likely benign Dyskeratosis congenita, autosomal dominant 6 2024-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377799 SCV002684371 likely benign Inborn genetic diseases 2022-04-04 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 RCV003321846 SCV004026609 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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