ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.1167G>A (p.Val389=)

gnomAD frequency: 0.00113  dbSNP: rs150586960
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000949161 SCV001095401 benign Deficiency of galactokinase 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000949161 SCV002088882 likely benign Deficiency of galactokinase 2019-10-24 no assertion criteria provided clinical testing

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