ClinVar Miner

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

gnomAD frequency: 0.02792  dbSNP: rs74145715
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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 RCV000251449 SCV000315195 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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 RCV000952609 SCV000602958 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000952609 SCV001099124 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000952609 SCV001865292 benign not provided 2018-11-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000952609 SCV005221787 likely benign not provided criteria provided, single submitter not provided

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