ClinVar Miner

Submissions for variant NM_001077415.3(CRELD1):c.320G>A (p.Arg107His) (rs28941780)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000372397 SCV000338718 uncertain significance not provided 2016-01-13 criteria provided, single submitter clinical testing
Invitae RCV001086171 SCV000557765 benign Atrioventricular septal defect 2 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000003598 SCV000023756 pathogenic Atrioventricular septal defect, partial, with heterotaxy syndrome 2014-03-31 no assertion criteria provided literature only

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