ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.444G>C (p.Leu148=)

dbSNP: rs1022934488
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001447616 SCV001650686 likely benign Peroxisome biogenesis disorder 2024-12-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707604 SCV005223809 likely benign not provided criteria provided, single submitter not provided

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