ClinVar Miner

Submissions for variant NM_001106.3(ACVR2B):c.119G>A (p.Arg40His) (rs121434437)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000351904 SCV000443345 likely benign Heterotaxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000007261 SCV000770523 benign Heterotaxy, visceral, 4, autosomal 2017-12-06 criteria provided, single submitter clinical testing
OMIM RCV000007261 SCV000027457 pathogenic Heterotaxy, visceral, 4, autosomal 1999-01-01 no assertion criteria provided literature only
PreventionGenetics RCV000243624 SCV000306607 likely benign not specified criteria provided, single submitter clinical testing

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