ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.60C>T (p.Phe20=)

gnomAD frequency: 0.00009  dbSNP: rs556192480
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 RCV000966604 SCV001113944 likely benign Deficiency of galactokinase 2024-02-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000966604 SCV002089507 likely benign Deficiency of galactokinase 2021-09-28 no assertion criteria provided clinical testing

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