ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.897G>A (p.Ala299=)

gnomAD frequency: 0.00001  dbSNP: rs372779905
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001414924 SCV001617071 likely benign Peroxisome biogenesis disorder, complementation group 7 2025-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405649 SCV004127971 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing PEX10: BP4, BP7

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