ClinVar Miner

Submissions for variant NM_004564.3(GATB):c.176+7T>C

gnomAD frequency: 0.40922  dbSNP: rs1429559
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001686944 SCV001904984 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788770 SCV002029561 benign Combined oxidative phosphorylation deficiency 41 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001686944 SCV005305512 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975956 SCV004799267 benign GATB-related disorder 2019-10-30 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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