ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) (rs74145715)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251449 SCV000315195 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286661 SCV000365401 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000251449 SCV000602958 benign not specified 2016-10-17 criteria provided, single submitter clinical testing
Invitae RCV000952609 SCV001099124 benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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