ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2550C>G (p.Ala850=)

dbSNP: rs2745180
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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 RCV001432512 SCV001635283 likely benign Saldino-Mainzer syndrome 2023-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495597 SCV002802354 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-12-28 criteria provided, single submitter clinical testing

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