ClinVar Miner

Submissions for variant NM_001122752.2(SERPINI1):c.1116C>T (p.Val372=)

gnomAD frequency: 0.00009  dbSNP: rs142605327
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478243 SCV001682509 likely benign Familial encephalopathy with neuroserpin inclusion bodies 2024-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434263 SCV004149392 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing SERPINI1: BP4, BP7

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