ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.513+6_513+12del

dbSNP: rs541952457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116584 SCV000150547 uncertain significance not provided 2013-07-17 criteria provided, single submitter clinical testing
Invitae RCV000116584 SCV001049353 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002515797 SCV003737713 likely benign Inborn genetic diseases 2021-05-20 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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