ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)

gnomAD frequency: 0.00001  dbSNP: rs1009877821
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496742 SCV001701453 likely benign Zellweger spectrum disorders 2024-01-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578740 SCV001806040 uncertain significance Heimler syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578741 SCV001806041 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578742 SCV001806042 uncertain significance Peroxisome biogenesis disorder 1B 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001496742 SCV002076822 likely benign Zellweger spectrum disorders 2021-10-04 no assertion criteria provided clinical testing

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