ClinVar Miner

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

gnomAD frequency: 0.01656  dbSNP: rs116594644
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242561 SCV000315187 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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 RCV000952611 SCV000602960 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000952611 SCV001099126 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000952611 SCV001849827 benign not provided 2018-11-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000952611 SCV005221791 likely benign not provided criteria provided, single submitter not provided

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