ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.101+5C>T

gnomAD frequency: 0.00346  dbSNP: rs150421355
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123562 SCV000166901 benign not specified 2014-04-17 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.
Invitae RCV000553826 SCV000644123 benign Sengers syndrome; Cataract 38 2023-12-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003456366 SCV004185496 benign not provided 2023-11-01 criteria provided, single submitter clinical testing AGK: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004530064 SCV004746584 benign AGK-related disorder 2020-03-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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