ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys)

gnomAD frequency: 0.00024  dbSNP: rs200148505
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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) RCV000597511 SCV000706997 uncertain significance not provided 2017-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483632 SCV002791419 uncertain significance Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 2022-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000597511 SCV003251279 likely benign not provided 2024-05-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000597511 SCV005188005 uncertain significance not provided criteria provided, single submitter not provided

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