ClinVar Miner

Submissions for variant NM_001082486.1(ACD):c.153C>T (p.Leu51=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002403127 SCV002705870 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.
Invitae RCV003100709 SCV003300652 likely benign Dyskeratosis congenita, autosomal dominant 6 2023-09-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003418501 SCV004139992 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing ACD: BP4, BP7

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