ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.5435-7T>C

gnomAD frequency: 0.00068  dbSNP: rs202045892
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516589 SCV001724888 benign not provided 2023-11-19 criteria provided, single submitter clinical testing
GeneDx RCV001516589 SCV001873064 benign not provided 2020-03-31 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001516589 SCV002009211 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001516589 SCV004151342 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FN1: BP4, BS1

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