ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.789G>A (p.Pro263=)

gnomAD frequency: 0.00038  dbSNP: rs138315382
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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 RCV000877019 SCV001019684 benign FGFR2-related craniosynostosis 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV001560171 SCV001782525 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530864 SCV004721458 likely benign FGFR2-related disorder 2019-06-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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