ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp)

gnomAD frequency: 0.00542  dbSNP: rs139078629
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960239 SCV001107198 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171339 SCV001328286 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PP2, PP3, BS1
GeneDx RCV000960239 SCV001883001 benign not provided 2020-03-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960239 SCV004151343 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing FN1: BS2
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000960239 SCV001553229 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000960239 SCV001743982 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726390 SCV001966359 benign not specified no assertion criteria provided clinical testing

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