ClinVar Miner

Submissions for variant NM_030582.4(COL18A1):c.2460T>C (p.Leu820=) (rs11702425)

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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 RCV000249339 SCV000314640 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342153 SCV000436392 benign Knobloch syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000342153 SCV000745076 benign Knobloch syndrome 1 2017-06-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000342153 SCV000734092 benign Knobloch syndrome 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000342153 SCV000745791 benign Knobloch syndrome 1 2017-01-23 no assertion criteria provided clinical testing

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