ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.14057A>G (p.Asn4686Ser)

gnomAD frequency: 0.00015  dbSNP: rs141106704
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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 RCV002068804 SCV002461006 benign not provided 2023-03-21 criteria provided, single submitter clinical testing
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV004731079 SCV005044980 benign KMT2C-related NDD criteria provided, single submitter research
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252919 SCV001164062 uncertain significance Microcephaly no assertion criteria provided research

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