ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys)

gnomAD frequency: 0.00002  dbSNP: rs199422208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000512615 SCV000795596 uncertain significance Alpha-1-antitrypsin deficiency 2017-11-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002260969 SCV002541237 uncertain significance not provided 2021-12-30 criteria provided, single submitter clinical testing
OMIM RCV000019563 SCV000039860 other PI X 2016-07-15 no assertion criteria provided literature only
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital RCV000512615 SCV000608323 benign Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation

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