ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) (rs115582213)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246611 SCV000304269 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369623 SCV000410948 likely benign Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515093 SCV000610140 benign not provided 2017-06-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000246611 SCV000614317 benign not specified 2017-07-25 criteria provided, single submitter clinical testing
Invitae RCV000515093 SCV001012112 benign not provided 2018-12-31 criteria provided, single submitter clinical testing

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