ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3876G>A (p.Val1292=)

gnomAD frequency: 0.00001  dbSNP: rs986239975
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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 RCV001444997 SCV001648016 likely benign Saldino-Mainzer syndrome 2024-06-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005014564 SCV005642707 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-29 criteria provided, single submitter clinical testing

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