ClinVar Miner

Submissions for variant NM_001199267.2(DGKZ):c.162-604C>T

gnomAD frequency: 0.00281  dbSNP: rs142912996
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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 RCV002163343 SCV002464876 benign not provided 2023-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002163343 SCV004130053 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing DGKZ: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002163343 SCV005320174 benign not provided criteria provided, single submitter not provided

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