ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1000A>G (p.Asn334Asp)

gnomAD frequency: 0.00006  dbSNP: rs112150341
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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
GeneDx RCV001698280 SCV000531980 likely benign not provided 2019-12-04 criteria provided, single submitter clinical testing
Invitae RCV001034332 SCV001197673 benign Koolen-de Vries syndrome 2021-10-06 criteria provided, single submitter clinical testing

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