ClinVar Miner

Submissions for variant NM_001122752.2(SERPINI1):c.-19+117A>G

gnomAD frequency: 0.00043  dbSNP: rs145045884
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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 RCV000271105 SCV000442064 likely benign Familial encephalopathy with neuroserpin inclusion bodies 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311644 SCV000484051 likely benign Cerebral cavernous malformation 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710938 SCV005262908 likely benign not provided criteria provided, single submitter not provided

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