ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.432A>G (p.Gly144=) (rs1575928044)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945449 SCV001091467 likely benign not provided 2018-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022302 SCV001184021 likely benign Hereditary cancer-predisposing syndrome 2019-08-09 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001398364 SCV001600133 likely benign Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2020-11-15 criteria provided, single submitter clinical testing

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