ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.750C>G (p.Pro250=)

dbSNP: rs761741087
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001465316 SCV001669300 likely benign Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2 2021-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559816 SCV002672629 likely benign Dyskeratosis congenita 2022-04-23 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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