ClinVar Miner

Submissions for variant NM_194456.1(KRIT1):c.846-5dup (rs373763254)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000316426 SCV000470446 likely benign Cerebral cavernous malformation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357228 SCV000470447 likely benign Angiokeratoma corporis diffusum with arteriovenous fistulas 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000721904 SCV000644724 benign not provided 2018-01-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721904 SCV000853056 uncertain significance not provided 2013-10-09 criteria provided, single submitter clinical testing

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