ClinVar Miner

Submissions for variant NM_001199267.2(DGKZ):c.2660C>G (p.Thr887Arg)

gnomAD frequency: 0.00449  dbSNP: rs76583617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
TIDEX, University of British Columbia RCV000655962 SCV000586854 uncertain significance atypical cerebral palsy criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002060086 SCV002410746 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002060086 SCV004130059 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing DGKZ: BS2

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