ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser)

gnomAD frequency: 0.00006  dbSNP: rs12674022
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133137 SCV003812591 uncertain significance Kleefstra syndrome 2 2019-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422000 SCV004157090 benign not provided 2024-08-01 criteria provided, single submitter clinical testing KMT2C: BP4, BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV003422000 SCV004279088 benign not provided 2023-04-09 criteria provided, single submitter clinical testing
ITMI RCV000121454 SCV000085648 not provided not specified 2013-09-19 no assertion provided reference population

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