ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3672G>A (p.Ala1224=)

gnomAD frequency: 0.00001  dbSNP: rs765766910
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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 RCV001506656 SCV001711584 likely benign Saldino-Mainzer syndrome 2024-05-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503066 SCV002807718 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-11-09 criteria provided, single submitter clinical testing

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