ClinVar Miner

Submissions for variant NM_002300.8(LDHB):c.130-3_130-2del

dbSNP: rs200371155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000278311 SCV000377469 likely benign Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000948885 SCV001095112 benign not provided 2019-11-22 criteria provided, single submitter clinical testing

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