ClinVar Miner

Submissions for variant NM_001122752.2(SERPINI1):c.414T>C (p.His138=)

gnomAD frequency: 0.00005  dbSNP: rs758630825
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 RCV001079632 SCV001075975 likely benign Familial encephalopathy with neuroserpin inclusion bodies 2024-12-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000930323 SCV001145522 likely benign not provided 2019-06-06 criteria provided, single submitter clinical testing

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