ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3144A>G (p.Lys1048=)

dbSNP: rs745389061
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002531447 SCV000820152 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-11-15 criteria provided, single submitter clinical testing

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