ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.1515C>T (p.Gly505=) (rs116594644)

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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 RCV000242561 SCV000315187 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400514 SCV000365432 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000242561 SCV000602960 benign not specified 2016-10-17 criteria provided, single submitter clinical testing
Invitae RCV000952611 SCV001099126 benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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