ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2051A>G (p.Asp684Gly)

gnomAD frequency: 0.00013  dbSNP: rs776981958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Degerman lab, Umeå University RCV000677345 SCV000611697 likely pathogenic Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2017-11-23 criteria provided, single submitter clinical testing
Invitae RCV000799933 SCV000939622 uncertain significance Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2 2021-08-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508165 SCV001714132 uncertain significance not provided 2019-12-19 criteria provided, single submitter clinical testing

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