ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.865+9C>T

dbSNP: rs1555811201
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648450 SCV000770270 likely benign Developmental and epileptic encephalopathy, 12 2019-07-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733904 SCV000862009 uncertain significance not provided 2018-06-25 criteria provided, single submitter clinical testing

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