ClinVar Miner

Submissions for variant NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp)

gnomAD frequency: 0.00159  dbSNP: rs149202834
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Phillips Lab, Hematology, University of Utah RCV001731431 SCV001985004 benign Acute intermittent porphyria 2021-08-16 criteria provided, single submitter clinical testing
Phillips Lab, Hematology, University of Utah RCV001731432 SCV001985013 benign Variegate porphyria 2021-08-16 criteria provided, single submitter clinical testing
Phillips Lab, Hematology, University of Utah RCV001731433 SCV001985018 benign Hereditary coproporphyria 2021-08-16 criteria provided, single submitter clinical testing
Phillips Lab, Hematology, University of Utah RCV001731521 SCV001985024 benign Protoporphyria, erythropoietic, 1 2021-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001699005 SCV002401195 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001699005 SCV004151434 benign not provided 2023-11-01 criteria provided, single submitter clinical testing ABCB6: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001699005 SCV005258874 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000201942 SCV000256867 affects Langereis blood group 2013-02-01 no assertion criteria provided literature only
Clinical Genetics, Academic Medical Center RCV001699005 SCV001919038 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699005 SCV001973855 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004751364 SCV005345461 likely benign ABCB6-related disorder 2024-03-19 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).

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