ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp)

gnomAD frequency: 0.00002  dbSNP: rs781491587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001027984 SCV001524412 uncertain significance Intellectual disability, autosomal recessive 3 2019-07-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238274 SCV002011592 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001027984 SCV001190734 uncertain significance Intellectual disability, autosomal recessive 3 2020-02-05 no assertion criteria provided clinical testing

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