ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.531C>T (p.Leu177=)

dbSNP: rs372771537
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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 RCV000501709 SCV000593868 likely benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350117 SCV002644972 likely benign Inborn genetic diseases 2017-06-20 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.
Invitae RCV003546564 SCV004269474 benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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