ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1984G>A (p.Val662Ile)

gnomAD frequency: 0.00005  dbSNP: rs199758112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074636 SCV001240228 uncertain significance Retinal dystrophy 2019-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862835 SCV002208118 likely benign Saldino-Mainzer syndrome 2024-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480450 SCV002784175 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-03-24 criteria provided, single submitter clinical testing

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