ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.*4A>G

gnomAD frequency: 0.67129  dbSNP: rs3814212
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175240 SCV000226689 benign not specified 2014-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000175240 SCV000315186 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369561 SCV000365457 benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001696182 SCV001916019 benign not provided 2018-04-26 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000175240 SCV001743569 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000175240 SCV001957377 benign not specified no assertion criteria provided clinical testing

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