ClinVar Miner

Submissions for variant NM_018474.6(KIZ):c.1809C>T (p.Phe603=)

gnomAD frequency: 0.00950  dbSNP: rs34011504
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000965469 SCV001112739 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503032 SCV002808852 likely benign Retinitis pigmentosa 69 2022-03-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000965469 SCV005314428 benign not provided criteria provided, single submitter not provided

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