ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2661G>A (p.Glu887=)

gnomAD frequency: 0.00001  dbSNP: rs1287846996
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625461 SCV000745466 likely benign Saldino-Mainzer syndrome 2015-09-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477366 SCV002795701 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625461 SCV002968359 likely benign Saldino-Mainzer syndrome 2024-06-26 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700426 SCV001925881 benign not specified no assertion criteria provided clinical testing

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