ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.*5C>G

gnomAD frequency: 0.00201  dbSNP: rs17879364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518755 SCV000613289 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
GeneDx RCV001613336 SCV001832770 benign not provided 2017-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613336 SCV005299385 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004541605 SCV004784525 likely benign FGFR3-related disorder 2021-03-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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