ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2315G>A (p.Arg772His)

gnomAD frequency: 0.00015  dbSNP: rs142822527
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
Invitae RCV000547640 SCV000653814 benign not provided 2023-10-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000547640 SCV002063334 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing NEXMIF: BP4, BS2

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