ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.995+49G>A

gnomAD frequency: 0.63462  dbSNP: rs284654
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079271 SCV000111141 benign not specified 2016-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079271 SCV000305442 likely benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527237 SCV001738188 benign Maple syrup urine disease 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001650903 SCV001866251 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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