ClinVar Miner

Submissions for variant NM_030582.4(COL18A1):c.2657C>G (p.Pro886Arg) (rs79980197)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248232 SCV000314643 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272153 SCV000436402 likely benign Knobloch syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711307 SCV000841648 benign not provided 2018-05-07 criteria provided, single submitter clinical testing

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