ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.2101del (p.Ala701fs)

dbSNP: rs2132836714
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001728024 SCV001976403 uncertain significance Cone-rod dystrophy 15 2021-09-21 criteria provided, single submitter clinical testing

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