ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3193A>C (p.Lys1065Gln)

gnomAD frequency: 0.00001  dbSNP: rs751955670
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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 RCV001059859 SCV001224510 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV001059859 SCV002030273 uncertain significance Tuberous sclerosis 2 2021-04-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001059859 SCV002040749 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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