ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.635G>C (p.Arg212Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796906 SCV005416491 likely pathogenic Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B criteria provided, single submitter clinical testing PM2_Supporting+PP3+PM3_Supporting+PP4+PM5

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