ClinVar Miner

Submissions for variant NM_015158.5(KANK1):c.857T>A (p.Val286Glu)

gnomAD frequency: 0.00024  dbSNP: rs114947217
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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 RCV002199443 SCV002342476 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498179 SCV002811287 likely benign Cerebral palsy, spastic quadriplegic, 2 2021-09-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543719 SCV004780149 likely benign KANK1-related disorder 2020-09-30 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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