ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) (rs200018583)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000954975 SCV000616698 benign not provided 2019-05-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30487145, 20308993)
Invitae RCV000954975 SCV001101645 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989145 SCV001139361 benign Auditory neuropathy, autosomal dominant, 1 2019-05-28 criteria provided, single submitter clinical testing

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