ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4183-20T>C

gnomAD frequency: 0.00008  dbSNP: rs371461352
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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 RCV002122600 SCV002406633 likely benign Saldino-Mainzer syndrome 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479915 SCV002800486 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-11-27 criteria provided, single submitter clinical testing

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