ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1371C>T (p.Leu457=)

gnomAD frequency: 0.00057  dbSNP: rs199758988
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001537082 SCV000762854 likely benign not provided 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001537082 SCV001753911 likely benign not provided 2021-04-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905731 SCV004725592 benign FGFR3-related condition 2019-06-26 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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