ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.831C>T (p.Ala277=)

gnomAD frequency: 0.00006  dbSNP: rs747216258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734045 SCV000862156 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086564 SCV001042379 likely benign Peroxisome biogenesis disorder 2B 2024-11-03 criteria provided, single submitter clinical testing

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