ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.686C>T (p.Pro229Leu)

dbSNP: rs1553264725
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000656681 SCV000778815 pathogenic Multiple mitochondrial dysfunctions syndrome 3 2018-06-25 no assertion criteria provided literature only

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