ClinVar Miner

Submissions for variant NM_017763.6(RNF43):c.1449G>A (p.Thr483=)

gnomAD frequency: 0.00009  dbSNP: rs370015542
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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 RCV001044589 SCV001208394 likely benign not provided 2024-08-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001044589 SCV005042142 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing RNF43: BP4, BP7
Ambry Genetics RCV004847771 SCV005486836 likely benign not specified 2024-11-25 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.

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