ClinVar Miner

Submissions for variant NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)

gnomAD frequency: 0.00035  dbSNP: rs142542453
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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) RCV000296147 SCV000344255 uncertain significance not provided 2016-08-18 criteria provided, single submitter clinical testing
Invitae RCV001088887 SCV000772439 benign Branched-chain keto acid dehydrogenase kinase deficiency 2023-12-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000296147 SCV001143738 benign not provided 2019-03-19 criteria provided, single submitter clinical testing
New York Genome Center RCV001255072 SCV001431163 uncertain significance Seizure 2020-02-07 no assertion criteria provided clinical testing

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