ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1368C>T (p.Val456=)

gnomAD frequency: 0.00003  dbSNP: rs561657958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002162594 SCV002415037 likely benign Saldino-Mainzer syndrome 2025-01-09 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889055 SCV004705018 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005008466 SCV005638707 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-03-27 criteria provided, single submitter clinical testing

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