ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.311G>T (p.Gly104Val)

dbSNP: rs869025630
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000679030 SCV000805337 uncertain significance not provided 2015-07-17 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000208803 SCV003806663 likely pathogenic Von Hippel-Lindau syndrome 2023-01-31 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29789510, 18584357, 33618821]. This variant is expected to disrupt protein structure [internal Myriad data].
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000208803 SCV000264704 likely pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing
Clinical Genomics Labs, University Health Network RCV000208803 SCV001950137 uncertain significance Von Hippel-Lindau syndrome 2020-02-14 no assertion criteria provided clinical testing

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