ClinVar Miner

Submissions for variant NM_030582.4(COL18A1):c.666G>A (p.Val222=) (rs115800039)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000372369 SCV000436347 likely benign Knobloch syndrome 1 2016-06-14 criteria provided, single submitter clinical testing

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