ClinVar Miner

Submissions for variant NM_016653.3(MAP3K20):c.1592C>T (p.Ser531Leu)

dbSNP: rs3769148
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001685590 SCV001897151 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776280 SCV002014233 benign Myopathy, centronuclear, 6, with fiber-type disproportion 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776279 SCV002014234 benign Split-foot malformation-mesoaxial polydactyly syndrome 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001685590 SCV002492656 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975924 SCV004798260 benign MAP3K20-related disorder 2023-01-26 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).

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