ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.942C>T (p.Ala314=)

gnomAD frequency: 0.00008  dbSNP: rs201717227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719884 SCV000528563 likely benign not provided 2021-06-17 criteria provided, single submitter clinical testing
Invitae RCV002515868 SCV003303463 benign FGFR2-related craniosynostosis 2022-11-04 criteria provided, single submitter clinical testing
ITMI RCV000121067 SCV000085235 not provided not specified 2013-09-19 no assertion provided reference population

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