ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.673A>G (p.Asn225Asp)

gnomAD frequency: 0.11593  dbSNP: rs35643216
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712046 SCV000842460 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV001514691 SCV001722595 benign Koolen-de Vries syndrome 2022-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000712046 SCV001844532 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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