ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.859dup (p.Ser287fs)

dbSNP: rs2135253148
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730012 SCV001976754 pathogenic Oculocutaneous albinism type 1A 2021-10-01 criteria provided, single submitter clinical testing PVS1, PM2, PP3, PP4

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