ClinVar Miner

Submissions for variant NR_001566.3(TERC):n.69_74dup

dbSNP: rs1553915621
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Degerman lab, Umeå University RCV000677349 SCV000611701 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 2017-11-23 criteria provided, single submitter clinical testing

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