ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2012+10CT[2]

dbSNP: rs564143152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514202 SCV000610087 likely benign not provided 2017-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060201 SCV002410260 benign Transposition of the great arteries, dextro-looped 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476028 SCV002801632 likely benign Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2021-10-13 criteria provided, single submitter clinical testing

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