ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.807C>T (p.Ser269=)

gnomAD frequency: 0.00021  dbSNP: rs199614237
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001591430 SCV000762851 likely benign not provided 2023-11-12 criteria provided, single submitter clinical testing
GeneDx RCV001591430 SCV001824649 likely benign not provided 2020-07-17 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001591430 SCV002036198 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796757 SCV002038402 benign not specified no assertion criteria provided clinical testing

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