ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=)

dbSNP: rs752578370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610911 SCV000720962 likely benign not specified 2017-07-14 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) RCV000732741 SCV000860725 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing

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