ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro)

gnomAD frequency: 0.00001  dbSNP: rs559371453
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005010467 SCV005642692 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-06-12 criteria provided, single submitter clinical testing
OMIM RCV000515594 SCV000611641 pathogenic Retinitis pigmentosa 80 2017-11-22 no assertion criteria provided literature only

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