ClinVar Miner

Submissions for variant NM_016097.5(IER3IP1):c.*58T>C (rs150586939)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656061 SCV000588337 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
Reproductive Health Research and Development,BGI Genomics RCV000991184 SCV001142481 likely benign Epilepsy 2020-01-06 no assertion criteria provided curation NM_016097.4:c.*58T>C in the IER3IP1 gene has an allele frequency of 0.008 in the gnomAD database, including 12 homozygous occurrences. The allele frequency is 0.1321 in the Asian subpopulation (total allele is less than 2000). Benign computational verdict because benign prediction from DANN. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS2; BP4.

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