ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr)

gnomAD frequency: 0.00004  dbSNP: rs369493147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075464 SCV001241087 uncertain significance Retinal dystrophy 2018-10-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001371865 SCV001568449 likely benign Saldino-Mainzer syndrome 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505666 SCV002806165 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-11-15 criteria provided, single submitter clinical testing

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