ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2718C>G (p.Arg906=)

gnomAD frequency: 0.00001  dbSNP: rs780540683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001322378 SCV001513246 likely benign Saldino-Mainzer syndrome 2022-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493686 SCV002803945 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-11-30 criteria provided, single submitter clinical testing

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