ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.48G>A (p.Lys16=)

dbSNP: rs2084674938
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002991427 SCV003305624 likely benign Tuberous sclerosis 2 2022-03-03 criteria provided, single submitter clinical testing

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