ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.11208-7G>A (rs1336552092)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000593717 SCV000705433 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001261555 SCV001438819 likely pathogenic Schwartz-Jampel syndrome criteria provided, single submitter clinical testing

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