ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.547+19T>C

gnomAD frequency: 0.00099  dbSNP: rs183120644
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566172 SCV001789652 likely benign not provided 2020-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001566172 SCV002387477 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495904 SCV002801941 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-08-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001566172 SCV005258360 likely benign not provided criteria provided, single submitter not provided

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