ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2865-8G>T

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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 RCV003005166 SCV003301512 likely benign Saldino-Mainzer syndrome 2022-09-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010861 SCV005642765 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-28 criteria provided, single submitter clinical testing

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