ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3053C>A (p.Thr1018Asn)

dbSNP: rs145863194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797205 SCV000936752 uncertain significance Koolen-de Vries syndrome 2021-08-31 criteria provided, single submitter clinical testing
Mendelics RCV002249512 SCV002517221 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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