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
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.
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

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