ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg) (rs201083879)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000460973 SCV000241341 benign not provided 2019-04-22 criteria provided, single submitter clinical testing
Invitae RCV001085743 SCV000559737 likely benign Koolen-de Vries syndrome 2020-11-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000460973 SCV001144291 benign not provided 2018-11-23 criteria provided, single submitter clinical testing

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