ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.4367C>T (p.Thr1456Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004554995 SCV005043835 likely pathogenic Retinitis pigmentosa 13 2024-02-09 criteria provided, single submitter clinical testing PS2, PM2

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