ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.297+18A>G

gnomAD frequency: 0.00225  dbSNP: rs138364626
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423146 SCV000511993 likely benign not specified 2017-05-22 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 RCV002058878 SCV002391429 benign Sengers syndrome; Cataract 38 2024-01-25 criteria provided, single submitter clinical testing

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