ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.267+15del

dbSNP: rs886061906
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393088 SCV000466217 uncertain significance Pyruvate dehydrogenase complex deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304750 SCV000466218 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359444 SCV000466219 uncertain significance Maple syrup urine disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003624411 SCV004517476 benign Pyruvate dehydrogenase E3 deficiency 2023-07-06 criteria provided, single submitter clinical testing

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