ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.135G>A (p.Pro45=) (rs773519476)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524492 SCV000253319 likely benign Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000198105 SCV000489527 likely benign Von Hippel-Lindau syndrome 2016-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564375 SCV000675790 likely benign Hereditary cancer-predisposing syndrome 2017-07-26 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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