ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.8502A>T (p.Glu2834Asp)

gnomAD frequency: 0.00321  dbSNP: rs138845109
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
TIDEX, University of British Columbia RCV000655963 SCV000586855 uncertain significance atypical cerebral palsy criteria provided, single submitter research
Invitae RCV000893694 SCV001037647 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
ITMI RCV000121486 SCV000085680 not provided not specified 2013-09-19 no assertion provided reference population

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