ClinVar Miner

Submissions for variant NM_004268.5(MED17):c.690C>T (p.Leu230=)

gnomAD frequency: 0.00502  dbSNP: rs116727804
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193193 SCV000248030 uncertain significance not specified 2014-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000906805 SCV001051469 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000906805 SCV001897143 benign not provided 2019-03-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274822 SCV001459313 benign Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 2020-04-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003977516 SCV004799560 benign MED17-related disorder 2024-04-17 no assertion criteria provided 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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