ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.959T>C (p.Leu320Pro)

dbSNP: rs1584728115
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003054 SCV001161111 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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