ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.954A>G (p.Gln318=)

gnomAD frequency: 0.00003  dbSNP: rs773332161
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000927234 SCV001072815 likely benign not provided 2018-03-13 criteria provided, single submitter clinical testing
Invitae RCV001473759 SCV001677917 likely benign Koolen-de Vries syndrome 2018-03-01 criteria provided, single submitter clinical testing

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