ClinVar Miner

Submissions for variant NM_017755.6(NSUN2):c.1602-19A>G

gnomAD frequency: 0.02921  dbSNP: rs13171975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585384 SCV001819271 likely benign not provided 2018-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001585384 SCV002381355 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001585384 SCV005259108 likely benign not provided criteria provided, single submitter not provided

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