ClinVar Miner

Submissions for variant NM_030582.4(COL18A1):c.3321C>T (p.Pro1107=) (rs11544970)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247426 SCV000314651 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371942 SCV000436424 likely benign Knobloch syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000371942 SCV000745077 likely benign Knobloch syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000371942 SCV000745792 benign Knobloch syndrome 1 2017-01-23 no assertion criteria provided clinical testing

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