ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.707G>A (p.Trp236Ter)

gnomAD frequency: 0.00001  dbSNP: rs61754367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV000004009 SCV001821939 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
OMIM RCV000004009 SCV000024175 pathogenic Tyrosinase-negative oculocutaneous albinism 1993-01-01 no assertion criteria provided literature only
Retina International RCV000085966 SCV000118109 not provided not provided no assertion provided not provided

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