ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.7234C>A (p.Pro2412Thr)

gnomAD frequency: 0.01838  dbSNP: rs13231116
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
Invitae RCV001512759 SCV001720220 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
ITMI RCV000121481 SCV000085675 not provided not specified 2013-09-19 no assertion provided reference population

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