ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.256A>G (p.Met86Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Erciyes University Faculty of Medicine RCV004691608 SCV004543767 likely pathogenic Retinitis pigmentosa 10 2024-02-01 no assertion criteria provided clinical testing

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