ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3299T>C (p.Leu1100Pro)

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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 RCV005017669 SCV005642742 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-02-13 criteria provided, single submitter clinical testing

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