ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1479+11C>T

gnomAD frequency: 0.00471  dbSNP: rs114137311
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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 RCV001514947 SCV001722917 benign Peroxisome biogenesis disorder 2024-02-01 criteria provided, single submitter clinical testing

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