ClinVar Miner

Submissions for variant NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Medical Genetics, Central South University RCV000851382 SCV000902473 pathogenic Tyrosinase-positive oculocutaneous albinism 2019-03-26 no assertion criteria provided clinical testing

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