ClinVar Miner

Submissions for variant NM_004991.4(MECOM):c.1270AGG[1] (p.Arg425del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004776087 SCV005383406 uncertain significance not provided 2024-02-12 criteria provided, single submitter clinical testing In-frame deletion of 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge

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