ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.919_921del (p.Met307del)

gnomAD frequency: 0.00001  dbSNP: rs1247635972
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674134 SCV000799417 uncertain significance Deficiency of galactokinase 2018-04-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674134 SCV004197952 likely pathogenic Deficiency of galactokinase 2022-07-17 criteria provided, single submitter clinical testing

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