ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3712G>T (p.Ala1238Ser)

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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 RCV005017665 SCV005642713 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2023-12-27 criteria provided, single submitter clinical testing

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