ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1566G>A (p.Arg522=)

gnomAD frequency: 0.00001  dbSNP: rs950336722
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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 RCV001419150 SCV001621396 likely benign Peroxisome biogenesis disorder 2023-01-08 criteria provided, single submitter clinical testing

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