ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp)

gnomAD frequency: 0.00001  dbSNP: rs754373519
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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 RCV001243980 SCV001417172 likely benign Saldino-Mainzer syndrome 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504351 SCV002815073 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-02-06 criteria provided, single submitter clinical testing

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