ClinVar Miner

Submissions for variant NM_030578.4(B9D2):c.33A>G (p.Ile11Met) (rs2241714)

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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 RCV000251213 SCV000314626 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267709 SCV000413325 benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000616360 SCV000745388 benign Meckel syndrome, type 10 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000860230 SCV001000210 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000616360 SCV000733895 benign Meckel syndrome, type 10 no assertion criteria provided clinical testing

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