ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.126G>A (p.Ala42=)

dbSNP: rs886043548
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000374977 SCV000340636 uncertain significance not provided 2016-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083832 SCV000644223 benign Tuberous sclerosis 2 2023-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562725 SCV000675655 likely benign Hereditary cancer-predisposing syndrome 2017-07-03 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.
Genome-Nilou Lab RCV001083832 SCV002041038 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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