ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.4235G>A (p.Arg1412His)

gnomAD frequency: 0.00006  dbSNP: rs374045534
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000943870 SCV001089827 benign not provided 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000943870 SCV004165843 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing NEXMIF: BP4

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