ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3676T>G (p.Cys1226Gly)

gnomAD frequency: 0.00002  dbSNP: rs769306313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596869 SCV000705755 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532496 SCV003751336 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.3676T>G (p.C1226G) alteration is located in exon 28 (coding exon 27) of the ABCB4 gene. This alteration results from a T to G substitution at nucleotide position 3676, causing the cysteine (C) at amino acid position 1226 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000596869 SCV003824338 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing

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