ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.748-5dup

dbSNP: rs563675060
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180128 SCV000232510 benign not specified 2014-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511996 SCV001719330 benign Peroxisome biogenesis disorder 9B 2025-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277427 SCV002566967 benign Connective tissue disorder 2021-10-12 criteria provided, single submitter clinical testing

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