ClinVar Miner

Submissions for variant NM_057174.2(PEX16):c.760G>C (p.Val254Leu) (rs35214605)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000294744 SCV000372059 likely benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549075 SCV000638111 benign Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2017-06-16 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676059 SCV000801793 likely benign not provided 2017-10-03 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000845059 SCV000986900 not provided Peroxisome biogenesis disorder 8A; Peroxisome biogenesis disorder 8B no assertion provided phenotyping only Variant interpretted as Likely benign and reported on 10/30/2014 by GTR ID 320384. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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