ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.855A>G (p.Leu285=)

gnomAD frequency: 0.00184  dbSNP: rs3762242
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537712 SCV000653833 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461328 SCV000847551 benign Inborn genetic diseases 2016-03-01 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.
Athena Diagnostics Inc RCV000537712 SCV001144366 benign not provided 2018-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000537712 SCV001844900 benign not provided 2019-08-28 criteria provided, single submitter clinical testing

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