ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser)

gnomAD frequency: 0.00002  dbSNP: rs763140298
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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 RCV002013907 SCV002299423 likely benign Saldino-Mainzer syndrome 2023-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486672 SCV002777438 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-01-04 criteria provided, single submitter clinical testing

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