ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln)

gnomAD frequency: 0.00019  dbSNP: rs45506695
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189950 SCV000243617 likely benign not specified 2016-09-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000989442 SCV000544559 benign Tuberous sclerosis 2 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491612 SCV000579582 benign Hereditary cancer-predisposing syndrome 2021-08-17 criteria provided, single submitter clinical testing This alteration is classified as 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.
Mendelics RCV000989442 SCV001139768 benign Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989442 SCV002040295 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000491612 SCV002534065 likely benign Hereditary cancer-predisposing syndrome 2021-08-27 criteria provided, single submitter curation
Tuberous sclerosis database (TSC2) RCV000043208 SCV000067009 not provided Tuberous sclerosis syndrome no assertion provided curation
CSER _CC_NCGL, University of Washington RCV000043208 SCV000190673 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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