ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)

gnomAD frequency: 0.00024  dbSNP: rs137960127
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872380 SCV001014181 likely benign Maple syrup urine disease 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000872380 SCV001289414 uncertain significance Maple syrup urine disease 2017-04-27 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV000872380 SCV002032885 likely benign Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273308 SCV001456204 uncertain significance Maple syrup urine disease type 1A 2020-01-24 no assertion criteria provided clinical testing

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