ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys)

dbSNP: rs2033533123
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001261290 SCV003807382 uncertain significance KBG syndrome 2022-09-23 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting
Autoinflammatory diseases unit, CHU de Montpellier RCV001261290 SCV001438099 likely pathogenic KBG syndrome 2017-03-13 no assertion criteria provided clinical testing

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