ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2691C>T (p.Arg897=)

gnomAD frequency: 0.00002  dbSNP: rs776456361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001442656 SCV001645608 likely benign Saldino-Mainzer syndrome 2024-09-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501559 SCV002806424 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-11-17 criteria provided, single submitter clinical testing

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