ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1737C>T (p.Ser579=)

dbSNP: rs1230491407
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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 RCV002200384 SCV002352841 likely benign Saldino-Mainzer syndrome 2024-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507904 SCV002808062 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-12-04 criteria provided, single submitter clinical testing

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