ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1169A>G (p.Lys390Arg)

gnomAD frequency: 0.00004  dbSNP: rs369998823
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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 RCV001314926 SCV001505478 likely benign Saldino-Mainzer syndrome 2024-10-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012760 SCV005638722 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-05-17 criteria provided, single submitter clinical testing

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