ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3235G>A (p.Val1079Met)

gnomAD frequency: 0.00004  dbSNP: rs146537096
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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 RCV001312273 SCV001502718 likely benign Saldino-Mainzer syndrome 2025-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504475 SCV002816198 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-09-17 criteria provided, single submitter clinical testing

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