ClinVar Miner

Submissions for variant NM_017763.6(RNF43):c.988C>T (p.Arg330Ter)

dbSNP: rs1972767451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200226 SCV001371130 likely pathogenic not provided 2020-05-01 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003227932 SCV003925062 likely pathogenic Sessile serrated polyposis cancer syndrome criteria provided, single submitter clinical testing

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