ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1872C>T (p.Asp624=)

gnomAD frequency: 0.00053  dbSNP: rs148914171
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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) RCV000596451 SCV000706851 uncertain significance not provided 2018-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078635 SCV001024028 likely benign Peroxisome biogenesis disorder 2B 2024-01-29 criteria provided, single submitter clinical testing

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