ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.840C>T (p.Arg280=)

gnomAD frequency: 0.00101  dbSNP: rs61737367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720116 SCV000521521 likely benign not provided 2020-06-29 criteria provided, single submitter clinical testing
Invitae RCV000873186 SCV001015140 benign Maple syrup urine disease 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000873186 SCV001289415 benign Maple syrup urine disease 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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