ClinVar Miner

Submissions for variant NM_032667.6(BSCL2):c.652_662del (p.Ala218fs) (rs1064797076)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenePathDx,Causeway Health Care Private Ltd RCV000487432 SCV000574539 pathogenic Congenital generalized lipodystrophy type 2 2016-09-01 criteria provided, single submitter clinical testing 8.5 years female with clinical diagnosis of Berardinelli-Seip congenital lipodystrophy.

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