ClinVar Miner

Submissions for variant NM_213647.3(FGFR4):c.407C>T (p.Pro136Leu)

gnomAD frequency: 0.73741  dbSNP: rs376618
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology Department, Puerta del Mar University Hospital RCV002227947 SCV002507274 likely benign Classic Hodgkin lymphoma 2021-10-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003973350 SCV004800676 benign FGFR4-related disorder 2019-10-17 no assertion criteria provided 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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