ClinVar Miner

Submissions for variant NM_001122752.2(SERPINI1):c.251-18T>C

gnomAD frequency: 0.00001  dbSNP: rs565445764
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002108870 SCV002437499 likely benign Familial encephalopathy with neuroserpin inclusion bodies 2024-11-05 criteria provided, single submitter clinical testing

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