ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1509G>C (p.Lys503Asn)

gnomAD frequency: 0.00052  dbSNP: rs138750983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822284 SCV002066362 uncertain significance not specified 2018-02-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478050 SCV002777207 uncertain significance Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2021-08-12 criteria provided, single submitter clinical testing

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