ClinVar Miner

Submissions for variant NM_000451.4(SHOX):c.-55C>T

dbSNP: rs772910213
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732650 SCV000860626 likely benign not specified 2018-04-17 criteria provided, single submitter clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269668 SCV001449822 likely pathogenic not provided 2015-05-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279506 SCV002566988 uncertain significance Connective tissue disorder 2020-04-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908047 SCV004721255 likely benign SHOX-related disorder 2020-10-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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