ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.-1382T>C

gnomAD frequency: 0.49546  dbSNP: rs2735940
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001787099 SCV000033818 uncertain significance Coronary artery disease, susceptibility to 2006-09-22 no assertion criteria provided literature only
Department of Orthopeadics and Traumatology, Nanfang Hospital RCV000498732 SCV000494461 association Chronic osteomyelitis 2016-09-01 no assertion criteria provided case-control

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