ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.8685G>A (p.Gln2895=)

gnomAD frequency: 0.33944  dbSNP: rs6464211
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515799 SCV001723955 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001515799 SCV001910839 benign not provided 2019-07-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730773 SCV001981142 benign Kleefstra syndrome 2 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515799 SCV005273456 benign not provided criteria provided, single submitter not provided

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