ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.43G>A (p.Glu15Lys)

dbSNP: rs1575315288
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786916 SCV000925817 uncertain significance Severe intellectual disability-progressive spastic diplegia syndrome 2018-12-12 no assertion criteria provided clinical testing

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