ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)

gnomAD frequency: 0.00006  dbSNP: rs371327573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000301612 SCV000342913 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764729 SCV000895864 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001855212 SCV002138832 likely benign Zellweger spectrum disorders 2024-01-13 criteria provided, single submitter clinical testing

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