ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.4168G>A (p.Asp1390Asn)

gnomAD frequency: 0.00081  dbSNP: rs142186771
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002536801 SCV001021682 benign Nance-Horan syndrome 2024-12-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001817055 SCV002068789 benign not specified 2017-08-16 criteria provided, single submitter clinical testing

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