ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.-57_3del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005049883 SCV005678945 likely pathogenic Ocular albinism, type I; Nystagmus 6, congenital, X-linked 2024-01-24 criteria provided, single submitter clinical testing

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