ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) (rs375007352)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000276921 SCV000342294 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000276921 SCV000883438 likely benign not provided 2018-06-28 criteria provided, single submitter clinical testing The ATP7B c.3786C>T; p.Val1262Val variant (rs375007352), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 288242). This variant is found in the general population with an overall allele frequency of 0.005% (13/277214 alleles) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant does not alter splicing. Based on available information, this variant is considered to be likely benign.
Invitae RCV001082927 SCV001075734 likely benign Wilson disease 2020-11-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001082927 SCV001454149 uncertain significance Wilson disease 2020-01-24 no assertion criteria provided clinical testing

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