ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1234-8_1234-7dup

dbSNP: rs200121485
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178749 SCV000230895 benign not specified 2014-11-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265794 SCV000463349 likely benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001080419 SCV000761086 benign Peroxisome biogenesis disorder 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000676095 SCV001144904 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
GeneDx RCV000676095 SCV001903347 benign not provided 2021-01-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676095 SCV000801835 benign not provided 2017-08-17 no assertion criteria provided clinical testing
Natera, Inc. RCV001276619 SCV001463071 benign Zellweger spectrum disorders 2020-09-16 no assertion criteria provided clinical testing

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