ClinVar Miner

Submissions for variant NM_000330.4(RS1):c.326+1131G>A

gnomAD frequency: 0.00004  dbSNP: rs267608664
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001089711 SCV001245195 uncertain significance Developmental and epileptic encephalopathy, 2 2020-02-14 criteria provided, single submitter clinical testing
Invitae RCV002055856 SCV002405819 benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-07-30 criteria provided, single submitter clinical testing
RettBASE RCV000133358 SCV000188369 uncertain significance not specified 2014-03-13 no assertion criteria provided curation Paper ambiguous as to carrier status; In silico prediction: SIFT = deleterious, MutationTaster = polymorphism, PolyPhen2 = benign, AlignGVGD = benign (C0)

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