ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.268A>G (p.Lys90Glu)

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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 RCV005019772 SCV005645316 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-06-08 criteria provided, single submitter clinical testing

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