ClinVar Miner

Submissions for variant NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) (rs143370956)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148874 SCV000190618 likely benign Alpha-1-antitrypsin deficiency 2014-06-01 no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178751 SCV000230897 likely benign not specified 2015-05-07 criteria provided, single submitter clinical testing
OMIM RCV000019562 SCV000039859 other PI P(ST. ALBANS) 2016-07-15 no assertion criteria provided literature only

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