ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1963C>T (p.Gln655Ter)

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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 RCV003991116 SCV004808436 likely pathogenic Retinitis pigmentosa 80 2023-03-22 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP

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