ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.1147_1164dup (p.Val383_Glu388dup)

dbSNP: rs775256289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000508833 SCV000575910 pathogenic Mitochondrial disease 2017-04-07 no assertion criteria provided clinical testing

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