ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu)

gnomAD frequency: 0.00031  dbSNP: rs150452037
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711638 SCV000842024 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000711638 SCV000858156 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing
Invitae RCV000711638 SCV002507649 likely benign not provided 2022-07-12 criteria provided, single submitter clinical testing

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