ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5768C>T (p.Thr1923Ile)

gnomAD frequency: 0.00008  dbSNP: rs149651647
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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 RCV000868972 SCV001010359 likely benign not provided 2018-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000868972 SCV001896191 benign not provided 2021-06-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30564305)
PreventionGenetics, part of Exact Sciences RCV004735843 SCV005352026 likely benign MED13L-related disorder 2024-05-15 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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