ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.220-8C>T

gnomAD frequency: 0.00001  dbSNP: rs1579598909
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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 RCV003768784 SCV001047170 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-11-18 criteria provided, single submitter clinical testing

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