ClinVar Miner

Submissions for variant NM_006361.6(HOXB13):c.705T>C (p.Tyr235=)

gnomAD frequency: 0.00001  dbSNP: rs923773143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564028 SCV000673586 likely benign Hereditary cancer-predisposing syndrome 2017-03-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001490313 SCV001694874 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005248312 SCV005898455 benign Prostate cancer, hereditary, 9 2024-10-30 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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