ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) (rs200769097)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000443675 SCV000511001 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765189 SCV000896424 uncertain significance Congenital hydrocephalus 1; Spinocerebellar ataxia 40 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000443675 SCV001062978 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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