ClinVar Miner

Submissions for variant NM_000062.3(SERPING1):c.686-1333A>T

dbSNP: rs1945388566
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeMIA RCV001263132 SCV001441200 likely benign Hereditary angioedema type 1 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (BA1), allele frequency is greater than expected for disorder (BS1), it is observed in a healthy adult individual (BS2), it is predicted to be benign by multiple in silico algorithms (BP4), it is found in a case with an alternate molecular basis for the disease (BP5) and/or reputable source recently reports variant as benign (BP6).

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