ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.6575+14G>A

gnomAD frequency: 0.00002  dbSNP: rs577534147
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222232 SCV000270952 likely benign not specified 2015-02-26 criteria provided, single submitter clinical testing c.6575+14G>A in intron 19 of TRIOBP: This variant is not expected to have clinic al significance because it has been identified in 0.6% (69/11848) of South Asian chromosomes including 1 homozygote by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org)
Labcorp Genetics (formerly Invitae), Labcorp RCV002517513 SCV002939721 benign not provided 2023-04-18 criteria provided, single submitter clinical testing

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