ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.-137T>C

gnomAD frequency: 0.12381  dbSNP: rs12386601
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250369 SCV000304413 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001277066 SCV000754537 benign Zellweger spectrum disorders 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001532819 SCV001748557 benign Peroxisome biogenesis disorder 1A (Zellweger) 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001682980 SCV001904391 benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682980 SCV005221049 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001277066 SCV001463801 benign Zellweger spectrum disorders 2020-09-16 no assertion criteria provided clinical testing

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