ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3003G>T (p.Ala1001=)

dbSNP: rs151293332
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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 RCV002138975 SCV002469594 likely benign Saldino-Mainzer syndrome 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494464 SCV002799288 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-02-11 criteria provided, single submitter clinical testing

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