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

dbSNP: rs11498192

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243178	SCV000305894	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000243178	SCV000332637	benign	not specified	2015-07-13	criteria provided, single submitter	clinical testing
Invitae	RCV000956383	SCV001103146	benign	not provided	2024-01-29	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	RCV000956383	SCV001158972	benign	not provided	2023-11-01	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)
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000243178	SCV001984053	benign	not specified	2020-03-25	criteria provided, single submitter	clinical testing