ClinVar Miner

Submissions for variant NM_005689.4(ABCB6):c.688-9C>T

gnomAD frequency: 0.00294  dbSNP: rs146410593
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964890 SCV001112138 benign not provided 2024-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503025 SCV002806325 likely benign Familial pseudohyperkalemia; Langereis blood group; Microphthalmia, isolated, with coloboma 7; Dyschromatosis universalis hereditaria 3 2021-10-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000964890 SCV005246547 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003943138 SCV004766369 benign ABCB6-related disorder 2019-12-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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