ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.5954C>A (p.Pro1985His)

gnomAD frequency: 0.00057  dbSNP: rs148388245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000895375 SCV001039412 likely benign not provided 2024-10-28 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171348 SCV001328295 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PP2, PP3, BS1

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