ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2801A>G (p.Asn934Ser)

gnomAD frequency: 0.01057  dbSNP: rs41306133
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000712138 SCV000653819 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712138 SCV000842561 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461323 SCV000847279 benign Inborn genetic diseases 2016-04-13 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000712138 SCV001938959 benign not provided 2019-07-31 criteria provided, single submitter clinical testing

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