ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.162-17T>A

gnomAD frequency: 0.00620  dbSNP: rs187902675
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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 RCV002132356 SCV002406854 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500038 SCV002800098 likely benign Kleefstra syndrome 2 2021-12-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002132356 SCV005273501 benign not provided criteria provided, single submitter not provided

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