ClinVar Miner

Submissions for variant NM_057174.2(PEX16):c.*434G>A

gnomAD frequency: 0.60761  dbSNP: rs2280329
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 RCV000392043 SCV000483277 benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718627 SCV005320130 benign not provided criteria provided, single submitter not provided

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