ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.882C>A (p.Ala294=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005013881 SCV005638745 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005061872 SCV005705857 likely benign Saldino-Mainzer syndrome 2024-07-03 criteria provided, single submitter clinical testing

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