ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2806+14C>T

gnomAD frequency: 0.00003  dbSNP: rs544074442
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002174294 SCV002475039 benign Peroxisome biogenesis disorder 2024-01-21 criteria provided, single submitter clinical testing

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