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: 4
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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 2024-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004984775 SCV005604056 likely benign Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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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