ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC

dbSNP: rs3833341
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253239 SCV000315224 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000191962 SCV001725171 benign Brown-Vialetto-van Laere syndrome 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001597026 SCV001831663 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
GeneReviews RCV000191962 SCV000246216 pathogenic Brown-Vialetto-van Laere syndrome 1 2015-03-17 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000253239 SCV001743414 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000253239 SCV001920122 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000253239 SCV001930439 benign not specified no assertion criteria provided clinical testing

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