ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.934C>T (p.Arg312Cys)

gnomAD frequency: 0.00173  dbSNP: rs201972845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873079 SCV001015008 benign Deficiency of galactokinase 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000873079 SCV001459336 uncertain significance Deficiency of galactokinase 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003955700 SCV004767959 benign GALK1-related disorder 2019-07-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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