ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1264-11_1270del

dbSNP: rs776737413
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000724730 SCV000569224 uncertain significance not provided 2019-06-29 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001080356 SCV000634502 likely benign Myopathy, centronuclear, 2 2024-01-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724730 SCV000700832 uncertain significance not provided 2015-04-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000724730 SCV001143164 uncertain significance not provided 2018-09-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001080356 SCV003829877 uncertain significance Myopathy, centronuclear, 2 2022-12-29 criteria provided, single submitter clinical testing

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