ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1116+6T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003128365 SCV003804579 likely pathogenic Tyrosinase-positive oculocutaneous albinism criteria provided, single submitter clinical testing

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