ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.*371_*372insG

gnomAD frequency: 0.00009  dbSNP: rs886062488
Minimum review status: Collection method:
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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 RCV000272660 SCV000470408 uncertain significance Angiokeratoma corporis diffusum with arteriovenous fistulas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327714 SCV000470409 uncertain significance Cerebral cavernous malformation 2016-06-14 criteria provided, single submitter clinical testing

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