ClinVar Miner

Submissions for variant NM_015158.5(KANK1):c.3245+9C>T

gnomAD frequency: 0.00061  dbSNP: rs144003040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002179170 SCV002489845 likely benign not provided 2023-11-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486990 SCV002800422 likely benign Cerebral palsy, spastic quadriplegic, 2 2021-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545235 SCV004781864 likely benign KANK1-related disorder 2020-01-29 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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