ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1653-10C>G

gnomAD frequency: 0.00162  dbSNP: rs199642265
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518414 SCV000613821 benign not specified 2017-06-23 criteria provided, single submitter clinical testing
Invitae RCV000555265 SCV000645036 benign Koolen-de Vries syndrome 2021-12-17 criteria provided, single submitter clinical testing
GeneDx RCV001653880 SCV001862396 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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