ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr)

dbSNP: rs528350505
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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 RCV001960245 SCV002226220 likely benign Saldino-Mainzer syndrome 2023-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479538 SCV002788041 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-03-25 criteria provided, single submitter clinical testing

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