ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4711A>G (p.Thr1571Ala)

gnomAD frequency: 0.00003  dbSNP: rs773833981
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005057160 SCV005697481 benign Transposition of the great arteries, dextro-looped 2024-11-05 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252062 SCV001427810 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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