ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.2448G>A (p.Gly816=)

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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 RCV003876740 SCV004681001 benign Nance-Horan syndrome 2024-07-01 criteria provided, single submitter clinical testing

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