ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3826C>G (p.Gln1276Glu)

gnomAD frequency: 0.00003  dbSNP: rs754763619
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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 RCV001509858 SCV001716757 benign not provided 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001509858 SCV001802664 likely benign not provided 2020-01-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232360 SCV005879537 likely benign X-linked intellectual disability, Cantagrel type 2024-08-26 criteria provided, single submitter clinical testing

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