ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.10639T>C (p.Ser3547Pro)

gnomAD frequency: 0.00054  dbSNP: rs78004519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000891429 SCV001035248 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891429 SCV004042326 benign not provided 2023-09-01 criteria provided, single submitter clinical testing KMT2C: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003905158 SCV004718761 benign KMT2C-related condition 2021-04-26 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000121515 SCV000085709 not provided not specified 2013-09-19 no assertion provided reference population

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