ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile)

dbSNP: rs1553631770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623772 SCV000741061 likely pathogenic Inborn genetic diseases 2015-09-28 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283821 SCV001469231 likely pathogenic Exudative vitreoretinopathy 7 2020-06-07 no assertion criteria provided clinical testing

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