ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.132C>T (p.Gly44=)

gnomAD frequency: 0.00102  dbSNP: rs138527794
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502729 SCV000593013 benign not specified 2019-03-20 criteria provided, single submitter clinical testing
Invitae RCV000560459 SCV000656046 benign Dyskeratosis congenita, autosomal dominant 6 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000560459 SCV002524368 benign Dyskeratosis congenita, autosomal dominant 6 2021-12-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000502729 SCV002551730 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358384 SCV002620294 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.
CeGaT Center for Human Genetics Tuebingen RCV003419854 SCV004139987 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ACD: BP4, BP7, BS2

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