ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3260-20T>C

gnomAD frequency: 0.00332  dbSNP: rs17121560
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243104 SCV000305393 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000675335 SCV000520633 benign not provided 2018-05-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20648714)
Genome-Nilou Lab RCV001807155 SCV002055067 benign Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001807155 SCV002432922 benign Glycogen storage disease type III 2024-02-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675335 SCV000801001 likely benign not provided 2017-06-15 no assertion criteria provided clinical testing

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