ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) (rs786205465)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000305954 SCV000778304 pathogenic Dubin-Johnson syndrome 2018-04-25 no assertion criteria provided clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171189 SCV000221386 likely pathogenic not provided no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000171189 SCV000706815 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000305954 SCV000894507 uncertain significance Dubin-Johnson syndrome 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305954 SCV000359788 uncertain significance Dubin-Johnson syndrome 2016-06-14 criteria provided, single submitter clinical testing

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