ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.739del (p.Val247fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005019761 SCV005645288 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-01-04 criteria provided, single submitter clinical testing

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