Submissions for variant NM_006883.2(SHOX):c.-512C>A

dbSNP: rs113313554

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003917585	SCV004728028	benign	SHOX-related disorder	2022-05-19	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetics Research Lab, Taif University	RCV000190324	SCV000223719	pathogenic	SHOX-related short stature		no assertion criteria provided	not provided	Converted during submission to Pathogenic.
Reproductive Health Research and Development, BGI Genomics	RCV000190324	SCV001142499	benign	SHOX-related short stature	2020-01-06	no assertion criteria provided	curation	NM_000451.3:c.-512C>A in SHOX gene has an allele frequency of 0.042 in African subpopulation in the gnomAD database, including 15 homozygous occurrences. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BS2.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699139	SCV001926275	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723743	SCV001957672	benign	not specified		no assertion criteria provided	clinical testing