ClinVar Miner

Submissions for variant NM_001085.5(SERPINA3):c.1247_1248del (p.Lys416fs)

dbSNP: rs750702304
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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 RCV000896852 SCV001040964 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing
OMIM RCV000019664 SCV000039962 benign ANTICHYMOTRYPSIN ISEHARA 2 2010-12-30 no assertion criteria provided literature only

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