ClinVar Miner

Submissions for variant NM_152305.3(POGLUT1):c.457-25G>A

gnomAD frequency: 0.81781  dbSNP: rs4688007
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001655515 SCV001868838 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789482 SCV002031611 benign Autosomal recessive limb-girdle muscular dystrophy type 2R1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789481 SCV002031612 benign Dowling-Degos disease 4 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655515 SCV005301223 benign not provided criteria provided, single submitter not provided

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