ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val) (rs119484087)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230766 SCV000290446 benign Combined oxidative phosphorylation deficiency 17 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000005362 SCV000025540 pathogenic Prostate cancer, hereditary, 2 2001-08-15 no assertion criteria provided literature only

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