ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.201C>T (p.His67=)

gnomAD frequency: 0.00002  dbSNP: rs747703354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613674 SCV000719239 likely benign not specified 2017-05-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000728280 SCV000855833 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000728280 SCV004666805 likely benign not provided 2024-02-16 criteria provided, single submitter clinical testing

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