ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu)

gnomAD frequency: 0.00009  dbSNP: rs201330213
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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 RCV002525586 SCV000551521 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-10-24 criteria provided, single submitter clinical testing
GeneDx RCV001753902 SCV002007191 uncertain significance not provided 2024-12-17 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Identified in an individual with common variable immunodeficiency (PMID: 37944684); This variant is associated with the following publications: (PMID: 37944684)
Baylor Genetics RCV003470475 SCV004208105 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2024-02-07 criteria provided, single submitter clinical testing

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