ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.455G>A (p.Ser152Asn)

dbSNP: rs58933950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000011263 SCV004805998 uncertain significance Ocular albinism, type I 2024-03-25 criteria provided, single submitter clinical testing
OMIM RCV000011263 SCV000031491 pathogenic Ocular albinism, type I 1998-04-01 no assertion criteria provided literature only
Retina International RCV000084936 SCV000117072 not provided not provided no assertion provided not provided

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