ClinVar Miner

Submissions for variant NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter) (rs373436822)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Samuels research lab,Centre de Recherche du CHU Ste-Justine RCV000144716 SCV000190695 pathogenic Leigh syndrome 2014-04-01 no assertion criteria provided research
OMIM RCV000144955 SCV000191972 uncertain significance not provided 2014-11-01 no assertion criteria provided literature only

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