ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2282A>G (p.His761Arg)

gnomAD frequency: 0.00001  dbSNP: rs745882136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003079185 SCV003461872 benign Transposition of the great arteries, dextro-looped 2024-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003061607 SCV003639219 uncertain significance Inborn genetic diseases 2022-08-12 criteria provided, single submitter clinical testing The c.2282A>G (p.H761R) alteration is located in exon 12 (coding exon 12) of the MED13L gene. This alteration results from a A to G substitution at nucleotide position 2282, causing the histidine (H) at amino acid position 761 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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