ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.3951C>T (p.Asp1317=)

gnomAD frequency: 0.00001  dbSNP: rs763439987
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002279097 SCV002567635 uncertain significance not provided 2022-02-21 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002279097 SCV002965991 likely benign not provided 2022-08-10 criteria provided, single submitter clinical testing

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