ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1010+3G>A

gnomAD frequency: 0.00001  dbSNP: rs771246986
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792799 SCV000932119 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-06-13 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252237 SCV002523246 uncertain significance See cases 2019-09-18 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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