ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.2058-10T>C

gnomAD frequency: 0.00001  dbSNP: rs756377540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827007 SCV000968618 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003588680 SCV004331153 benign FGFR2-related craniosynostosis 2022-12-06 criteria provided, single submitter clinical testing

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