ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1707+6_1707+9del

dbSNP: rs879253938
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236881 SCV000292863 pathogenic not provided 2015-05-21 criteria provided, single submitter clinical testing The c.1707+6_1707+9delTAAG variant in the ATP7A gene has not been reported previously as a disease-causing variant nor as a benign polymorphism, to our knowledge. This variant reduces the quality of the splice donor site in intron 6, and is expected to cause abnormal gene splicing. The c.1707+6_1707+9delTAAG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1707+6_1707+9delTAAG as a disease-causing variant

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