ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.858G>A (p.Arg286=)

gnomAD frequency: 0.00001  dbSNP: rs1349483506
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000944854 SCV001090836 likely benign Deficiency of galactokinase 2023-04-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000944854 SCV002088893 likely benign Deficiency of galactokinase 2020-12-21 no assertion criteria provided clinical testing

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