ClinVar Miner

Submissions for variant NM_000451.4(SHOX):c.870G>A (p.Leu290=)

gnomAD frequency: 0.01047  dbSNP: rs746391025
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000251367 SCV000231546 likely benign not specified 2016-04-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000251367 SCV000304376 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000251367 SCV000615263 benign not specified 2024-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812158 SCV002048798 benign not provided 2024-06-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277420 SCV002566990 benign Connective tissue disorder 2021-12-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812158 SCV005207880 likely benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000251367 SCV005884782 benign not specified 2024-12-06 criteria provided, single submitter clinical testing

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