ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1248C>A (p.Ile416=)

gnomAD frequency: 0.00032  dbSNP: rs183390670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000390845 SCV000334104 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000390845 SCV001083001 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828186 SCV002077909 likely benign Progressive familial intrahepatic cholestasis type 2 2020-01-31 no assertion criteria provided clinical testing

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