ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.678C>T (p.Tyr226=)

gnomAD frequency: 0.00142  dbSNP: rs141575580
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179257 SCV000231478 benign not specified 2015-04-22 criteria provided, single submitter clinical testing
Invitae RCV001532499 SCV000762856 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532499 SCV001748092 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing FGFR3: BP4, BP7, BS2
GeneDx RCV001532499 SCV001783852 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001532499 SCV002049653 benign not provided 2023-11-09 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000179257 SCV001799955 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001532499 SCV001969195 likely benign not provided no assertion criteria provided clinical testing

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