ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.549_550insGCCTCCAG (p.Leu184fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004598410 SCV005091196 likely pathogenic Retinitis pigmentosa 11 2024-05-16 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP

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