ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1695C>T (p.Ser565=)

gnomAD frequency: 0.00004  dbSNP: rs755547376
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422945 SCV001625508 likely benign Peroxisome biogenesis disorder 2B 2023-11-03 criteria provided, single submitter clinical testing

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