ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.465G>C (p.Leu155=)

gnomAD frequency: 0.00003  dbSNP: rs1187015124
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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) RCV000733034 SCV000861047 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001452897 SCV001656575 likely benign Peroxisome biogenesis disorder 2025-01-08 criteria provided, single submitter clinical testing

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