ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1122C>G (p.Thr374=)

gnomAD frequency: 0.00001  dbSNP: rs1555500988
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594602 SCV000709141 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003512063 SCV004274777 likely benign Tuberous sclerosis 2 2022-12-17 criteria provided, single submitter clinical testing

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