ClinVar Miner

Submissions for variant NM_018474.6(KIZ):c.1387dup (p.Ala463fs)

dbSNP: rs11087346
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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 RCV001512891 SCV001720388 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888250 SCV004707007 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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