ClinVar Miner

Submissions for variant NM_006883.2(SHOX):c.-507G>C

gnomAD frequency: 0.28055  dbSNP: rs111549748
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277324 SCV002566987 benign Connective tissue disorder 2022-04-15 criteria provided, single submitter clinical testing
Genetics Research Lab, Taif University RCV000190323 SCV000223718 pathogenic SHOX-related short stature no assertion criteria provided not provided Converted during submission to Pathogenic.
Reproductive Health Research and Development, BGI Genomics RCV000190323 SCV001142500 benign SHOX-related short stature 2020-01-06 no assertion criteria provided curation NM_000451.3:c.-507G>C in the gene SHOX has an allele frequency of 0.327 in East Asian subpopulation in the gnomAD database, including 1343 homozygous occurrences. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699216 SCV001926775 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699216 SCV001955854 benign not specified no assertion criteria provided clinical testing

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