ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1077_1093del (p.Met359fs)

dbSNP: rs1879651226
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001249646 SCV001423662 pathogenic Transposition of the great arteries, dextro-looped; Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2018-05-08 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PS2, PM2] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2].

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