ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2130C>T (p.Pro710=)

gnomAD frequency: 0.00003  dbSNP: rs190201507
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002180936 SCV002473852 likely benign Koolen-de Vries syndrome 2022-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002180936 SCV002805645 likely benign Koolen-de Vries syndrome 2021-10-21 criteria provided, single submitter clinical testing

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