ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.990-1G>A

dbSNP: rs1554518790
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626869 SCV000747572 likely pathogenic Cavernous hemangioma 2017-01-01 criteria provided, single submitter clinical testing

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