ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1933G>T (p.Glu645Ter)

dbSNP: rs2082718032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812455 SCV001472080 pathogenic not provided 2019-08-08 criteria provided, single submitter clinical testing

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