ClinVar Miner

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

gnomAD frequency: 0.00053  dbSNP: rs200769097
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Total submissions: 4
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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 Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000443675 SCV001062978 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000443675 SCV001793635 uncertain significance not provided 2019-10-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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