ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1656C>T (p.Tyr552=)

gnomAD frequency: 0.00010  dbSNP: rs143789839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002533413 SCV000770776 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-10-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258993 SCV002533109 likely benign Dyskeratosis congenita 2020-10-22 criteria provided, single submitter curation
Ambry Genetics RCV002258993 SCV002707094 likely benign Dyskeratosis congenita 2022-02-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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