ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1359_1359+3delinsAC

dbSNP: rs2141816540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783468 SCV002023132 pathogenic not provided 2019-07-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503266 SCV002809805 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-09-15 criteria provided, single submitter clinical testing

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