ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met)

gnomAD frequency: 0.00083  dbSNP: rs56240927
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000121085 SCV000224778 benign not specified 2015-04-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755538 SCV000603705 benign not provided 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000755538 SCV001014152 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000755538 SCV001143910 benign not provided 2019-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000755538 SCV001856129 benign not provided 2018-08-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000755538 SCV004147511 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing FGFR3: BP4, BS1
ITMI RCV000121085 SCV000085253 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000755538 SCV001800153 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000121085 SCV001808241 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000755538 SCV001952185 likely benign not provided no assertion criteria provided clinical testing

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