ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr)

gnomAD frequency: 0.00007  dbSNP: rs140089320
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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 RCV001048513 SCV001212524 uncertain significance Koolen-de Vries syndrome 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001048513 SCV002792772 uncertain significance Koolen-de Vries syndrome 2021-10-13 criteria provided, single submitter clinical testing

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