ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5248C>T (p.Leu1750Phe)

dbSNP: rs45459299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513621 SCV003443473 benign Tuberous sclerosis 2 2022-09-26 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042625 SCV000066419 not provided Tuberous sclerosis syndrome no assertion provided curation

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