ClinVar Miner

Submissions for variant NC_012920.1(MT-ND4):m.12015T>C

dbSNP: rs1603223512
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV000993794 SCV001146968 likely benign Seizure; Stroke disorder 2019-12-09 criteria provided, single submitter clinical testing heteroplasmic 10% in blood, BS2+BP4, PMID: 31293567

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