ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2013-7C>T

gnomAD frequency: 0.12825  dbSNP: rs199749418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001490859 SCV001695432 likely benign Transposition of the great arteries, dextro-looped 2022-03-03 criteria provided, single submitter clinical testing
GeneDx RCV001595077 SCV001829861 benign not provided 2019-08-20 criteria provided, single submitter clinical testing

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