ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2751dup (p.Glu918Ter)

dbSNP: rs2034453469
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
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 RCV001261252 SCV002512528 pathogenic KBG syndrome 2022-01-04 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderate
Autoinflammatory diseases unit, CHU de Montpellier RCV001261252 SCV001438090 pathogenic KBG syndrome 2018-03-28 no assertion criteria provided clinical testing

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