ClinVar Miner

Submissions for variant NM_001042472.2(ABHD12):c.-220G>A

gnomAD frequency: 0.54397  dbSNP: rs3827014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000279252 SCV000433245 benign PHARC syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001613104 SCV001838147 benign not provided 2018-11-10 criteria provided, single submitter clinical testing

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