ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.1038G>A (p.Val346=)

dbSNP: rs770240292
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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 RCV002105716 SCV002404721 likely benign not provided 2022-11-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500000 SCV002808929 likely benign Kleefstra syndrome 2 2022-04-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002105716 SCV005219893 likely benign not provided criteria provided, single submitter not provided

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