ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) (rs372979339)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145260 SCV000192323 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics,Sofia University, St. Kliment Ohridski RCV000855544 SCV000920943 likely pathogenic Wilson disease 2019-06-14 criteria provided, single submitter clinical testing The p.Phe764Phe variant in ATP7B has been found in 1 Bulgarian and 1 Egyptian families and was segregated with the disease and associated with low ceruloplasmin levels in carriers for this variant.
Invitae RCV000855544 SCV001064251 likely benign Wilson disease 2019-12-31 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197842 SCV001368622 uncertain significance Abnormality of the liver; Decreased serum ceruloplasmin; Kayser-Fleischer ring; Cirrhosis of liver 2019-05-08 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM3,PP2,PP3, PP5. This variant was detected in heterozygous state.

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