ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.611+9C>T

gnomAD frequency: 0.00064  dbSNP: rs370204015
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 RCV000878769 SCV001021732 benign Deficiency of galactokinase 2025-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000878769 SCV001459341 likely benign Deficiency of galactokinase 2020-06-18 no assertion criteria provided clinical testing

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