ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2054G>A (p.Arg685His)

gnomAD frequency: 0.00001  dbSNP: rs370263158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296505 SCV001485471 likely benign Saldino-Mainzer syndrome 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493558 SCV002803250 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-11-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002493558 SCV006054420 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-08-13 criteria provided, single submitter research

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