ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.539C>T (p.Pro180Leu)

dbSNP: rs1574624062
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001007477 SCV001167093 likely pathogenic Mitochondrial trifunctional protein deficiency criteria provided, single submitter clinical testing

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