ClinVar Miner

Submissions for variant NM_002010.3(FGF9):c.381+17C>T

gnomAD frequency: 0.27243  dbSNP: rs2274296
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001619934 SCV001847113 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702118 SCV001933446 benign Multiple synostoses syndrome 3 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001619934 SCV002384687 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619934 SCV005230809 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529146 SCV001742130 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529146 SCV001959246 benign not specified no assertion criteria provided clinical testing

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