ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.7777G>T (p.Gly2593Ter)

dbSNP: rs756353784
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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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 RCV003140537 SCV003807340 likely pathogenic Dermatitis, atopic, 2 2022-03-23 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderated

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