ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1357A>C (p.Lys453Gln)

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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 RCV005013874 SCV005638710 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-03-25 criteria provided, single submitter clinical testing

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