ClinVar Miner

Submissions for variant NM_004565.3(PEX14):c.1116C>T (p.Asn372=)

gnomAD frequency: 0.00066  dbSNP: rs149856184
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) RCV000593007 SCV000702951 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089183 SCV001057868 benign Peroxisome biogenesis disorder, complementation group K 2025-01-27 criteria provided, single submitter clinical testing

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