ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) (rs137876961)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238891 SCV000297345 likely benign not specified 2015-10-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000238891 SCV000333177 benign not specified 2015-08-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380865 SCV000365440 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512914 SCV000608558 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV000512914 SCV001105220 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing

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