ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2716C>T (p.Arg906Cys)

dbSNP: rs755504361
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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 RCV001071711 SCV001237029 likely benign Saldino-Mainzer syndrome 2024-03-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021428 SCV005642773 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-02-26 criteria provided, single submitter clinical testing

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