ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.6C>G (p.Pro2=)

dbSNP: rs1014417508
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525157 SCV000626916 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678736 SCV005179648 likely benign Hereditary cancer-predisposing syndrome 2024-06-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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