ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2400-12G>A

dbSNP: rs186193750
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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 RCV001427372 SCV001630049 likely benign Saldino-Mainzer syndrome 2025-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495586 SCV002796873 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-11-02 criteria provided, single submitter clinical testing

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