ClinVar Miner

Submissions for variant NM_000410.4(HFE):c.1006+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
School of Computer Science,University of Waterloo RCV001376186 SCV001573238 likely pathogenic Hemochromatosis type 1 2021-05-06 criteria provided, single submitter clinical testing Evidence categories PVS1 and PM2 in ACMG guidelines. This is a splice donor variant in gene HFE that may disrupt mRNA splicing and result in an absent or disrupted protein product.

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