ClinVar Miner

Submissions for variant NM_015158.5(KANK1):c.2933T>C (p.Met978Thr)

gnomAD frequency: 0.00003  dbSNP: rs753441206
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477905 SCV000536747 uncertain significance Cerebral palsy, spastic quadriplegic, 2 2016-04-20 no assertion criteria provided research

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