ClinVar Miner

Submissions for variant NM_000055.4(BCHE):c.884A>G (p.Lys295Arg)

gnomAD frequency: 0.00001  dbSNP: rs115624085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490369 SCV000267224 likely pathogenic Deficiency of butyrylcholinesterase 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000490369 SCV000800500 uncertain significance Deficiency of butyrylcholinesterase 2017-02-24 criteria provided, single submitter clinical testing

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