ClinVar Miner

Submissions for variant NM_018474.6(KIZ):c.1783+15A>G

gnomAD frequency: 0.00005  dbSNP: rs756423093
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075799 SCV001241432 uncertain significance Retinal dystrophy 2019-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067734 SCV002431297 likely benign not provided 2025-01-07 criteria provided, single submitter clinical testing

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