ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.44A>T (p.Gln15Leu)

gnomAD frequency: 0.79353  dbSNP: rs1250259
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987029 SCV001136210 benign Spondyloepimetaphyseal dysplasia, Strudwick type 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521856 SCV001731272 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001521856 SCV001901817 benign not provided 2018-11-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30389748)
Genome-Nilou Lab RCV001702076 SCV001933580 benign Glomerulopathy with fibronectin deposits 2 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702874 SCV001933581 benign Spondylometaphyseal dysplasia - Sutcliffe type 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521856 SCV005243932 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529025 SCV001741775 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529025 SCV001960160 benign not specified no assertion criteria provided clinical testing

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