ClinVar Miner

Submissions for variant NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) (rs11498192)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243178 SCV000305894 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000243178 SCV000332637 benign not specified 2015-07-13 criteria provided, single submitter clinical testing
Invitae RCV000956383 SCV001103146 benign not provided 2020-11-30 criteria provided, single submitter clinical testing
Mendelics RCV000987708 SCV001137128 likely benign Cleidocranial dysostosis 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281959 SCV001158972 benign none provided 2020-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000956383 SCV001864734 benign not provided 2019-11-29 criteria provided, single submitter clinical testing In-frame deletion of 6 amino acids in a repetitive region with no known function; In silico analysis supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29960047, 29089101, 9182765, 28027977)

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