ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup)

dbSNP: rs398124609
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082804 SCV000114852 uncertain significance not provided 2013-04-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818253 SCV002072046 likely benign not specified 2020-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055233 SCV002471450 benign Nance-Horan syndrome 2024-10-21 criteria provided, single submitter clinical testing

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