ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.12370A>G (p.Met4124Val)

gnomAD frequency: 0.00002  dbSNP: rs587778509
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133139 SCV003810101 uncertain significance Kleefstra syndrome 2 2019-11-05 criteria provided, single submitter clinical testing
ITMI RCV000121522 SCV000085716 not provided not specified 2013-09-19 no assertion provided reference population

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