ClinVar Miner

Submissions for variant NM_018474.6(KIZ):c.318C>T (p.Leu106=)

gnomAD frequency: 0.00001  dbSNP: rs1477553904
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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 RCV001486674 SCV001691140 likely benign not provided 2022-06-14 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888214 SCV004706993 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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