ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.2442C>T (p.Ser814=)

gnomAD frequency: 0.00001  dbSNP: rs143248909
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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 RCV000872262 SCV001014051 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454018 SCV002737603 likely benign Hereditary cancer-predisposing syndrome 2019-10-16 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.
Fulgent Genetics, Fulgent Genetics RCV002507520 SCV002808323 likely benign Patterned macular dystrophy 2 2022-05-16 criteria provided, single submitter clinical testing

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