ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1602C>T (p.His534=)

gnomAD frequency: 0.00009  dbSNP: rs563472929
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546798 SCV000626675 benign Glycogen storage disease type III 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000616869 SCV000732784 likely benign not specified 2018-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000546798 SCV002055058 benign Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942734 SCV004758496 likely benign AGL-related disorder 2020-10-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000546798 SCV002091503 likely benign Glycogen storage disease type III 2019-12-10 no assertion criteria provided clinical testing

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