ClinVar Miner

Submissions for variant NM_012179.4(FBXO7):c.122+272T>G

gnomAD frequency: 0.19102  dbSNP: rs8137714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001683608 SCV001899187 benign not provided 2018-08-25 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000609047 SCV000734123 benign Parkinsonian-pyramidal syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000609047 SCV000745600 benign Parkinsonian-pyramidal syndrome 2016-03-28 no assertion criteria provided clinical testing

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