ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Godley laboratory, The University of Chicago RCV001172450 SCV001251974 pathogenic Acute myeloid leukemia 2020-05-18 criteria provided, single submitter clinical testing This heterozygous variant was found in germline in a 75-year old patient with AML with myelodysplasia-associated changes. The following ACMG/AMP criteria were applied: PS1, PM1, PM5, PP2, PP3.

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