ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.114C>T (p.Ser38=) (rs417164)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204195 SCV000261879 likely benign Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000412359 SCV000488996 likely benign Von Hippel-Lindau syndrome 2016-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575638 SCV000675795 likely benign Hereditary cancer-predisposing syndrome 2016-01-13 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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