ClinVar Miner

Submissions for variant NM_001491.3(GCNT2):c.558C>T (p.Ile186=)

dbSNP: rs763988372
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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 RCV002084501 SCV002423733 likely benign Cataract 13 with adult I phenotype 2021-11-12 criteria provided, single submitter clinical testing

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