ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1951-205G>A

gnomAD frequency: 0.35840  dbSNP: rs10069690
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515603 SCV000770747 benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001668373 SCV001891122 benign not provided 2018-10-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26143636, 25919761, 26053551, 23535731, 22037553, 23066086)
Department of Orthopeadics and Traumatology, Nanfang Hospital RCV000498605 SCV000494458 association Chronic osteomyelitis 2016-09-01 no assertion criteria provided case-control

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