ClinVar Miner

Submissions for variant NM_000451.3(SHOX):c.-507G>C (rs111549748)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Research Lab, Taif University RCV000190323 SCV000223718 pathogenic Short stature, idiopathic, X-linked no assertion criteria provided not provided Converted during submission to Pathogenic.
Reproductive Health Research and Development,BGI Genomics RCV000190323 SCV001142500 benign Short stature, idiopathic, X-linked 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.

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