ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His)

gnomAD frequency: 0.00004  dbSNP: rs781056926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187788 SCV000241385 likely benign not provided 2020-03-03 criteria provided, single submitter clinical testing
Invitae RCV000543264 SCV000645058 uncertain significance Koolen-de Vries syndrome 2021-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000543264 SCV000895108 uncertain significance Koolen-de Vries syndrome 2018-10-31 criteria provided, single submitter clinical testing

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