ClinVar Miner

Submissions for variant NM_015202.5(KATNIP):c.3913G>A (p.Glu1305Lys)

gnomAD frequency: 0.00500  dbSNP: rs61730241
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951137 SCV001097505 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502928 SCV002809009 likely benign Joubert syndrome 26 2022-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000951137 SCV004143371 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing KATNIP: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000951137 SCV005296031 benign not provided criteria provided, single submitter not provided

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