ClinVar Miner

Submissions for variant NM_032667.6(BSCL2):c.317_321del (p.Tyr106fs) (rs587777608)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091624 SCV001247773 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
OMIM RCV000004793 SCV000024969 pathogenic Congenital generalized lipodystrophy type 2 2007-12-26 no assertion criteria provided literature only
OMIM RCV000133399 SCV000188472 pathogenic Encephalopathy, progressive, with or without lipodystrophy 2013-06-01 no assertion criteria provided literature only
GeneReviews RCV000004793 SCV000490132 pathogenic Congenital generalized lipodystrophy type 2 2016-12-08 no assertion criteria provided literature only

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