ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3435C>T (p.Val1145=)

gnomAD frequency: 0.00004  dbSNP: rs568906108
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586431 SCV001812896 likely benign not provided 2020-12-21 criteria provided, single submitter clinical testing
Invitae RCV002570837 SCV003281756 benign Transposition of the great arteries, dextro-looped 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536214 SCV004719428 likely benign MED13L-related disorder 2019-04-01 criteria provided, single submitter 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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