ClinVar Miner

Submissions for variant NM_015202.5(KATNIP):c.2277C>T (p.Pro759=)

gnomAD frequency: 0.00232  dbSNP: rs149945532
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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 RCV000900106 SCV001044409 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000900106 SCV001500074 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000900106 SCV005215718 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003922952 SCV004739034 likely benign KATNIP-related disorder 2019-05-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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