ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.728C>T (p.Ala243Val)

gnomAD frequency: 0.02804  dbSNP: rs7086200
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248844 SCV000315197 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399529 SCV000365409 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000952610 SCV000602959 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Invitae RCV000952610 SCV001099125 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000952610 SCV001910230 benign not provided 2018-11-20 criteria provided, single submitter clinical testing

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