ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.119C>T (p.Pro40Leu) (rs200343185)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199012 SCV000254648 likely benign Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565432 SCV000664620 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-15 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Counsyl RCV000662921 SCV000785868 uncertain significance Von Hippel-Lindau syndrome 2017-12-20 criteria provided, single submitter clinical testing
ITMI RCV000122259 SCV000086483 not provided not specified 2013-09-19 no assertion provided reference population

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