ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser)

dbSNP: rs138966725
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626160 SCV000746795 uncertain significance Mitochondrial trifunctional protein deficiency 2020-05-03 criteria provided, single submitter clinical testing

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