ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.524dup (p.Asn176fs) (rs781781440)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001742 SCV000021898 pathogenic Cone-rod dystrophy 15 2010-10-01 no assertion criteria provided literature only
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787810 SCV000926820 pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research

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