ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs) (rs761370843)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480226 SCV000573940 uncertain significance not provided 2019-06-03 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 2 amino acids are lost and replaced with 12] incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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