ClinVar Miner

Submissions for variant NC_000001.11:g.53214206T>C

gnomAD frequency: 0.25402  dbSNP: rs1056438
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354722 SCV000483033 benign Carnitine palmitoyltransferase II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715129 SCV005284620 benign not provided criteria provided, single submitter not provided

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