ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.2085_2089del (p.Val696fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003486314 SCV004238174 likely pathogenic Elliptocytosis 1 2023-02-06 criteria provided, single submitter clinical testing

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