ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.390G>A (p.Glu130=)

dbSNP: rs771375243
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Heart Center, Qingdao Women and Children's Hospital RCV001268954 SCV001448201 likely pathogenic Sengers syndrome no assertion criteria provided curation

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