ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.546T>G (p.Pro182=)

gnomAD frequency: 0.01185  dbSNP: rs28363395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475610 SCV000559845 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024154 SCV001186122 benign Hereditary cancer-predisposing syndrome 2019-05-09 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000475610 SCV001792815 likely benign not provided 2021-06-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000475610 SCV005225844 likely benign not provided criteria provided, single submitter not provided

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