ClinVar Miner

Submissions for variant NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)

gnomAD frequency: 0.00303  dbSNP: rs150221689
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Phillips Lab, Hematology, University of Utah RCV001731357 SCV001985003 likely benign Acute intermittent porphyria 2021-08-16 criteria provided, single submitter clinical testing
Phillips Lab, Hematology, University of Utah RCV001731358 SCV001985012 benign Variegate porphyria 2021-08-16 criteria provided, single submitter clinical testing
Phillips Lab, Hematology, University of Utah RCV001731356 SCV001985023 benign Protoporphyria, erythropoietic, 1 2021-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001699031 SCV002464341 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001699031 SCV004151433 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ABCB6: BS2
Breakthrough Genomics, Breakthrough Genomics RCV001699031 SCV005258873 likely benign not provided criteria provided, single submitter not provided
Eye Genetics Research Group, Children's Medical Research Institute RCV000059344 SCV000087418 uncertain significance Microphthalmia, isolated, with coloboma 7 2012-03-30 no assertion criteria provided research
Clinical Genetics, Academic Medical Center RCV001699031 SCV001920666 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699031 SCV001930967 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699031 SCV001970111 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003974948 SCV004800646 likely benign ABCB6-related disorder 2020-06-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Dr.Nikuei Genetic Center RCV000059344 SCV005061409 benign Microphthalmia, isolated, with coloboma 7 no assertion criteria provided clinical testing

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