ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4569+47G>A

dbSNP: rs45517351
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000242167 SCV000305227 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001711160 SCV001941824 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315575 SCV004016106 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043124 SCV000066923 not provided Tuberous sclerosis syndrome no assertion provided curation

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