ClinVar Miner

Submissions for variant NM_005247.4(FGF3):c.484C>A (p.Arg162=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003228319 SCV003924537 uncertain significance not provided 2022-11-09 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003228319 SCV004275750 likely benign not provided 2023-08-25 criteria provided, single submitter clinical testing

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