ClinVar Miner

Submissions for variant NM_001498.4(GCLC):c.1478-16C>A

gnomAD frequency: 0.00306  dbSNP: rs185146268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812525 SCV002049013 benign not provided 2024-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001812525 SCV002487907 benign not provided 2024-10-22 criteria provided, single submitter clinical testing

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