ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.3973C>T (p.Pro1325Ser)

gnomAD frequency: 0.00046  dbSNP: rs187060721
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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 RCV002962987 SCV003289409 likely benign not provided 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002982297 SCV003724289 likely benign Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003943680 SCV004760641 likely benign KMT2E-related disorder 2022-04-01 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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