ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.759T>C (p.Asp253=)

gnomAD frequency: 0.00001  dbSNP: rs374342179
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729556 SCV000857229 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001405565 SCV001607494 likely benign Peroxisome biogenesis disorder 2024-12-17 criteria provided, single submitter clinical testing

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