ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.41T>A (p.Leu14Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Erciyes University Faculty of Medicine RCV004691598 SCV004543758 uncertain significance Cone-rod dystrophy 15 2024-02-01 no assertion criteria provided clinical testing

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