ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.2287-5G>A (rs561426406)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Degerman lab,Umeå University RCV000677347 SCV000611699 uncertain significance Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2017-11-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765795 SCV000897185 uncertain significance Idiopathic fibrosing alveolitis, chronic form; Aplastic anemia; Dyskeratosis congenita autosomal dominant; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Cutaneous malignant melanoma 9 2018-10-31 criteria provided, single submitter clinical testing

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