ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1084+8C>T

dbSNP: rs1589827584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003588697 SCV001069333 likely benign FGFR2-related craniosynostosis 2024-01-28 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000923836 SCV001797348 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726373 SCV001963876 benign not specified no assertion criteria provided clinical testing

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