ClinVar Miner

Submissions for variant NM_015202.5(KATNIP):c.3719C>T (p.Ala1240Val)

gnomAD frequency: 0.00935  dbSNP: rs55953014
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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 RCV000964546 SCV001111765 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488052 SCV002801695 likely benign Joubert syndrome 26 2021-11-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000964546 SCV002822297 benign not provided 2024-12-01 criteria provided, single submitter clinical testing KATNIP: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000964546 SCV005296026 benign not provided criteria provided, single submitter not provided

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