ClinVar Miner

Submissions for variant NM_000055.4(BCHE):c.1015C>T (p.Gln339Ter)

dbSNP: rs1057517265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412007 SCV000487013 likely pathogenic Deficiency of butyrylcholinesterase 2016-09-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000412007 SCV003819464 likely pathogenic Deficiency of butyrylcholinesterase 2022-05-09 criteria provided, single submitter clinical testing

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