ClinVar Miner

Submissions for variant NM_001365068.1(ASTN2):c.2806+26470del (rs1588218453)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198484 SCV001369431 likely pathogenic Bardet-Biedl syndrome 11 2019-08-13 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
OMIM RCV000007777 SCV000027978 pathogenic Sarcotubular myopathy 2008-02-01 no assertion criteria provided literature only

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