ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.639G>A (p.Leu213=)

gnomAD frequency: 0.00007  dbSNP: rs138707520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002237229 SCV002507536 benign not provided 2023-09-08 criteria provided, single submitter clinical testing
GeneDx RCV002237229 SCV003930708 uncertain significance not provided 2022-12-06 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

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