ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1075C>T (p.Gln359Ter)

gnomAD frequency: 0.00001  dbSNP: rs62645909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000085891 SCV002544600 pathogenic not provided 2022-05-01 criteria provided, single submitter clinical testing TYR: PVS1, PM2, PM3
Baylor Genetics RCV003460775 SCV004207610 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-05-01 criteria provided, single submitter clinical testing
Retina International RCV000085891 SCV000118034 not provided not provided no assertion provided not provided

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