ClinVar Miner

Submissions for variant NM_015158.5(KANK1):c.2479A>G (p.Ile827Val)

gnomAD frequency: 0.00001  dbSNP: rs1057520089
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000441945 SCV000510881 uncertain significance not provided 2016-11-02 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.

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