ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.240C>T (p.Val80=)

gnomAD frequency: 0.00943  dbSNP: rs11593005
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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 RCV000243034 SCV000315190 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270121 SCV000365395 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000962041 SCV001109106 benign not provided 2025-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000962041 SCV001159454 benign not provided 2023-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000962041 SCV001818612 likely benign not provided 2020-03-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000962041 SCV004009994 benign not provided 2024-02-01 criteria provided, single submitter clinical testing CDHR1: BP4, BS1, BS2

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