ClinVar Miner

Submissions for variant NM_002615.7(SERPINF1):c.427G>A (p.Val143Ile)

gnomAD frequency: 0.00005  dbSNP: rs548418598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914278 SCV001059447 likely benign not provided 2024-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000914278 SCV002002362 uncertain significance not provided 2020-01-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30968248)

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