ClinVar Miner

Submissions for variant NM_019004.2(ANKIB1):c.-516CCGGAG[4]

dbSNP: rs886062498
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275128 SCV000470488 uncertain significance Angiokeratoma corporis diffusum with arteriovenous fistulas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332541 SCV000470489 uncertain significance Cerebral cavernous malformation 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696041 SCV005195944 uncertain significance not provided criteria provided, single submitter not provided

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