ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) (rs137852297)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011264 SCV000031492 pathogenic Ocular albinism, type I 1998-04-01 no assertion criteria provided literature only
Retina International RCV000084940 SCV000117076 not provided not provided no assertion provided not provided

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