ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2546-4G>A

gnomAD frequency: 0.00001  dbSNP: rs746958032
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205581 SCV000262209 benign Tuberous sclerosis 2 2024-01-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386784 SCV000395614 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563059 SCV000675661 benign Hereditary cancer-predisposing syndrome 2020-10-16 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.
GeneDx RCV000611664 SCV000730285 likely benign not specified 2017-11-07 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.
Genome-Nilou Lab RCV000205581 SCV002039663 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563059 SCV002531080 likely benign Hereditary cancer-predisposing syndrome 2020-11-03 criteria provided, single submitter curation

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