ClinVar Miner

Submissions for variant NM_005276.4(GPD1):c.236T>G (p.Val79Gly)

gnomAD frequency: 0.00117  dbSNP: rs147914698
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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 RCV000877070 SCV001019742 likely benign not provided 2024-06-18 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000877070 SCV001924649 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000877070 SCV001965485 uncertain significance not provided no assertion criteria provided clinical testing

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