ClinVar Miner

Submissions for variant NM_000709.3(BCKDHA):c.484+5G>A (rs149899007)

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Total submissions: 5
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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 RCV000514452 SCV000610262 benign not provided 2017-06-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079244 SCV000111114 benign not specified 2015-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000079244 SCV000515804 benign not specified 2016-02-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000315833 SCV000413349 likely benign Maple syrup urine disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000315833 SCV000627803 benign Maple syrup urine disease 2018-01-05 criteria provided, single submitter clinical testing

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