ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu)

gnomAD frequency: 0.00001  dbSNP: rs761904173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069415 SCV001234579 uncertain significance Koolen-de Vries syndrome 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001069415 SCV002806909 uncertain significance Koolen-de Vries syndrome 2022-02-01 criteria provided, single submitter clinical testing

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