ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.4146A>G (p.Pro1382=)

gnomAD frequency: 0.00296  dbSNP: rs114987066
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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 RCV000946672 SCV001092819 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000946672 SCV002575112 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV002479089 SCV002795965 benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-07-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000946672 SCV005243871 benign not provided criteria provided, single submitter not provided

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