ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4014T>A (p.Ile1338=)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center RCV003322655 SCV004027627 likely pathogenic Wilson disease criteria provided, single submitter curation
Baylor Genetics RCV003322655 SCV004216256 likely pathogenic Wilson disease 2024-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003322655 SCV004369261 likely benign Wilson disease 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004676190 SCV005176370 likely benign Inborn genetic diseases 2024-04-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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