ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1491C>T (p.Ser497=)

gnomAD frequency: 0.00079  dbSNP: rs79238506
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000393002 SCV000335418 likely benign not specified 2015-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000975108 SCV001122985 benign Peroxisome biogenesis disorder 2024-01-31 criteria provided, single submitter clinical testing

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