ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.159C>A (p.His53Gln)

dbSNP: rs12781048
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000314636 SCV000365393 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001510899 SCV001718052 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001510899 SCV001860450 benign not provided 2019-09-06 criteria provided, single submitter clinical testing

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