ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.704G>A (p.Ser235Asn) (rs397514957)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570091 SCV000675662 likely benign Hereditary cancer-predisposing syndrome 2017-04-13 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s);Co-occurence with mutation in same gene (phase unknown)
Invitae RCV000865248 SCV001006184 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055145 SCV000083363 not provided Tuberous sclerosis syndrome no assertion provided curation

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