ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.1514G>A (p.Arg505Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003623264 SCV004452929 benign Nance-Horan syndrome 2023-10-04 criteria provided, single submitter clinical testing

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