ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.518+18G>A

gnomAD frequency: 0.00235  dbSNP: rs192082201
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197587 SCV000251096 benign not specified 2014-06-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054317 SCV002404264 benign Sengers syndrome; Cataract 38 2024-01-18 criteria provided, single submitter clinical testing

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