ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3812T>C (p.Met1271Thr)

gnomAD frequency: 0.00010  dbSNP: rs138236888
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559841 SCV000653826 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461326 SCV000850427 likely benign Inborn genetic diseases 2019-09-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000559841 SCV001811649 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000559841 SCV004165845 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing NEXMIF: BP4, BS2

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