ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.2043G>A (p.Gly681=)

gnomAD frequency: 0.00101  dbSNP: rs17883356
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001692174 SCV000640374 benign not provided 2023-12-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732120 SCV000860028 likely benign not specified 2018-03-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000732120 SCV001477250 benign not specified 2020-04-09 criteria provided, single submitter clinical testing
GeneDx RCV001692174 SCV001909584 benign not provided 2018-12-17 criteria provided, single submitter clinical testing

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