ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.882+15_882+16del

gnomAD frequency: 0.00189  dbSNP: rs555409430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245452 SCV000303473 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000245452 SCV000344916 likely benign not specified 2016-08-12 criteria provided, single submitter clinical testing
Invitae RCV001516118 SCV001724345 benign Peroxisome biogenesis disorder 2024-01-29 criteria provided, single submitter clinical testing

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