ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys)

gnomAD frequency: 0.00041  dbSNP: rs149566146
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705004 SCV000241355 benign not provided 2021-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000187758 SCV000613822 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV000544966 SCV000645064 benign Koolen-de Vries syndrome 2021-09-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000544966 SCV002801868 likely benign Koolen-de Vries syndrome 2021-07-19 criteria provided, single submitter clinical testing

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