ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser)

gnomAD frequency: 0.00007  dbSNP: rs778311141
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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 RCV002048657 SCV002298457 likely benign Saldino-Mainzer syndrome 2022-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486725 SCV002780765 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-10-29 criteria provided, single submitter clinical testing

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