ClinVar Miner

Submissions for variant NM_006361.6(HOXB13):c.573A>G (p.Pro191=)

dbSNP: rs1597933773
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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 RCV002172580 SCV002331799 likely benign not provided 2024-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303707 SCV004000545 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 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.
Myriad Genetics, Inc. RCV005247366 SCV005898712 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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