ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.3215C>T (p.Thr1072Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002625867 SCV002961606 benign Nance-Horan syndrome 2025-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003961089 SCV004776566 likely benign NHS-related disorder 2023-09-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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