ClinVar Miner

Submissions for variant NM_017755.6(NSUN2):c.762C>T (p.Asp254=)

gnomAD frequency: 0.00014  dbSNP: rs763930477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501364 SCV000596128 likely benign not specified 2016-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060134 SCV002407676 benign not provided 2024-11-10 criteria provided, single submitter clinical testing

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