ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.*378dup

dbSNP: rs34910226
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000326080 SCV000470406 benign Cerebral cavernous malformation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380714 SCV000470407 benign Angiokeratoma corporis diffusum with arteriovenous fistulas 2016-06-14 criteria provided, single submitter clinical testing

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