ClinVar Miner

Submissions for variant NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) (rs199795381)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000680238 SCV000965830 uncertain significance Beaulieu-Boycott-Innes syndrome 2014-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000680238 SCV000992693 likely pathogenic Beaulieu-Boycott-Innes syndrome 2018-10-12 criteria provided, single submitter clinical testing
OMIM RCV000680238 SCV000807692 pathogenic Beaulieu-Boycott-Innes syndrome 2020-11-06 no assertion criteria provided literature only
GeneReviews RCV000680238 SCV001478048 pathogenic Beaulieu-Boycott-Innes syndrome 2020-08-05 no assertion criteria provided literature only

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