ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.4444C>T (p.Arg1482Cys)

gnomAD frequency: 0.00146  dbSNP: rs116558455
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972690 SCV001120413 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000972690 SCV001858652 benign not provided 2020-03-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972690 SCV005258339 likely benign not provided criteria provided, single submitter not provided

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