ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2655del (p.Trp885fs)

dbSNP: rs762111572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073518 SCV001239065 likely pathogenic Retinal dystrophy 2019-04-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482151 SCV002779780 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-01-30 criteria provided, single submitter clinical testing

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