ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.1060A>G (p.Ile354Val)

gnomAD frequency: 0.00001  dbSNP: rs1432272679
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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) RCV000597788 SCV000702222 uncertain significance not provided 2016-09-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530662 SCV004109423 uncertain significance ABCB4-related disorder 2023-06-13 criteria provided, single submitter clinical testing The ABCB4 c.1060A>G variant is predicted to result in the amino acid substitution p.Ile354Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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