ClinVar Miner

Submissions for variant NM_001085.5(SERPINA3):c.754C>G (p.Pro252Ala)

gnomAD frequency: 0.00322  dbSNP: rs17473
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485718 SCV000565552 likely benign not provided 2022-08-10 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000485718 SCV004130304 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SERPINA3: PP3, BS1
Breakthrough Genomics, Breakthrough Genomics RCV000485718 SCV005210845 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000019666 SCV000039964 pathogenic ANTICHYMOTRYPSIN BONN 1 1993-09-04 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003952363 SCV004769689 likely benign SERPINA3-related disorder 2023-05-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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