ClinVar Miner

Submissions for variant NM_001004356.3(FGFRL1):c.336C>T (p.Tyr112=)

gnomAD frequency: 0.00021  dbSNP: rs139057147
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912693 SCV001057808 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000912693 SCV004147454 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing FGFRL1: BP4, BP7

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