ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.551C>G (p.Ser184Ter)

gnomAD frequency: 0.00001  dbSNP: rs367543066
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004567159 SCV005055649 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-02-03 criteria provided, single submitter clinical testing
Laboratorio de Genetica Humana; Universidad de los Andes RCV000133602 SCV000188660 probable-pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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