ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.2800C>T (p.Arg934Trp)

gnomAD frequency: 0.00002  dbSNP: rs777771609
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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) RCV000729655 SCV000857331 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649302 SCV005144733 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.2800C>T (p.R934W) alteration is located in exon 21 (coding exon 21) of the ABCC2 gene. This alteration results from a C to T substitution at nucleotide position 2800, causing the arginine (R) at amino acid position 934 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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