ClinVar Miner

Submissions for variant NM_000387.6(SLC25A20):c.715A>C (p.Thr239Pro)

dbSNP: rs143961330
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ege University Pediatric Genetics, Ege University RCV000790371 SCV000925608 uncertain significance Carnitine acylcarnitine translocase deficiency 2019-05-15 criteria provided, single submitter clinical testing

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