ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.6896A>G (p.Tyr2299Cys)

gnomAD frequency: 0.00002  dbSNP: rs587778494
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001854649 SCV002315220 likely benign not provided 2023-07-07 criteria provided, single submitter clinical testing
New York Genome Center RCV003448267 SCV004176216 uncertain significance Kleefstra syndrome 2 2023-08-18 criteria provided, single submitter clinical testing
ITMI RCV000121469 SCV000085663 not provided not specified 2013-09-19 no assertion provided reference population

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