ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.657C>T (p.Ala219=)

gnomAD frequency: 0.00006  dbSNP: rs754593748
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 RCV000904217 SCV001048725 likely benign Deficiency of galactokinase 2023-12-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000904217 SCV002088894 likely benign Deficiency of galactokinase 2020-03-28 no assertion criteria provided clinical testing

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