ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1119A>C (p.Pro373=)

dbSNP: rs747342234
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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 RCV002530525 SCV000770782 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2019-10-19 criteria provided, single submitter clinical testing

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