ClinVar Miner

Submissions for variant NM_006361.6(HOXB13):c.165C>T (p.Gly55=)

dbSNP: rs1597934949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001858489 SCV002220702 likely benign not provided 2023-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399854 SCV002707512 likely benign Hereditary cancer-predisposing syndrome 2019-09-12 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.
Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca RCV000855881 SCV000993872 uncertain significance Prostate cancer, hereditary, 1 no assertion criteria provided clinical testing

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