ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=)

gnomAD frequency: 0.00059  dbSNP: rs142714242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000712139 SCV000653822 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712139 SCV000842562 likely benign not provided 2017-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461324 SCV000851091 likely benign Inborn genetic diseases 2016-06-21 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.

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