ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)

gnomAD frequency: 0.00079  dbSNP: rs56174879
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592343 SCV000703568 uncertain significance not provided 2016-12-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000592343 SCV001157972 benign not provided 2019-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000592343 SCV001796585 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062027 SCV002439970 benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543338 SCV004762507 likely benign FGFR1-related disorder 2019-11-01 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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