ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.993C>T (p.Asn331=) (rs45517153)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000950328 SCV001096627 likely benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019915 SCV001181329 likely benign Hereditary cancer-predisposing syndrome 2017-10-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Tuberous sclerosis database (TSC2) RCV000043236 SCV000067037 not provided Tuberous sclerosis syndrome no assertion provided curation

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