ClinVar Miner

Submissions for variant NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys)

dbSNP: rs62637027
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012176 SCV000032410 pathogenic Congenital stationary night blindness 1A 2000-11-01 no assertion criteria provided literature only
Retina International RCV000086268 SCV000118414 not provided not provided no assertion provided not provided

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