ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.885C>T (p.Gly295=)

gnomAD frequency: 0.00006  dbSNP: rs375181682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556475 SCV001778065 uncertain significance not provided 2020-11-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001556475 SCV002507600 likely benign not provided 2024-06-26 criteria provided, single submitter clinical testing

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