ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.1449C>G (p.Pro483=)

gnomAD frequency: 0.00197  dbSNP: rs201221633
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502078 SCV000593874 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314863 SCV000848970 likely benign Inborn genetic diseases 2017-02-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000972551 SCV001120271 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972551 SCV005209559 likely benign not provided criteria provided, single submitter not provided

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