ClinVar Miner

Submissions for variant NM_030582.4(COL18A1):c.4309G>A (p.Asp1437Asn) (rs12483377)

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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 RCV000248578 SCV000314663 benign not specified criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000018655 SCV000745083 benign Knobloch syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711309 SCV000841650 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Mendelics RCV000018655 SCV001141313 likely benign Knobloch syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000018655 SCV000038938 pathogenic Knobloch syndrome 1 2004-01-01 no assertion criteria provided literature only

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