ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.611+34G>A

gnomAD frequency: 0.01955  dbSNP: rs76743658
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594369 SCV000700291 benign not specified 2017-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537762 SCV001754715 benign Deficiency of galactokinase 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001565900 SCV001789341 likely benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001565900 SCV005214107 likely benign not provided criteria provided, single submitter not provided

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