ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.23G>A (p.Arg8Gln)

gnomAD frequency: 0.00023  dbSNP: rs368985605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727991 SCV000855508 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727991 SCV001691130 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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