ClinVar Miner

Submissions for variant NM_017755.6(NSUN2):c.1602-17_1602-15del

gnomAD frequency: 0.01987  dbSNP: rs139131959
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318971 SCV000458089 likely benign Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653700 SCV001861661 benign not provided 2019-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001653700 SCV002420182 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488785 SCV002801691 likely benign Intellectual disability, autosomal recessive 5 2021-11-08 criteria provided, single submitter clinical testing

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