ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp)

gnomAD frequency: 0.00036  dbSNP: rs140626076
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001854653 SCV002130353 benign not provided 2023-08-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133138 SCV003812607 uncertain significance Kleefstra syndrome 2 2019-12-07 criteria provided, single submitter clinical testing
ITMI RCV000121497 SCV000085691 not provided not specified 2013-09-19 no assertion provided reference population
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251812 SCV001427554 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004530019 SCV004749865 likely benign KMT2C-related disorder 2023-09-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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