ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp)

gnomAD frequency: 0.00016  dbSNP: rs575196272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046762 SCV001210676 likely benign Saldino-Mainzer syndrome 2023-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479288 SCV002782962 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-02-19 criteria provided, single submitter clinical testing

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