ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1362G>A (p.Thr454=)

gnomAD frequency: 0.00006  dbSNP: rs200183009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719030 SCV000726441 likely benign not provided 2020-08-11 criteria provided, single submitter clinical testing
Invitae RCV001037960 SCV001201398 likely benign FGFR2-related craniosynostosis 2023-10-24 criteria provided, single submitter clinical testing

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