ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.5651A>G (p.Tyr1884Cys)

gnomAD frequency: 0.00010  dbSNP: rs199890235
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521959 SCV001731399 benign not provided 2024-07-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001521959 SCV005910648 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing FN1: PP2, BS2
GenomeConnect, ClinGen RCV000709879 SCV000840217 not provided Glomerulopathy with fibronectin deposits 2; Plasma fibronectin deficiency no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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