ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.96G>A (p.Leu32=)

gnomAD frequency: 0.00001  dbSNP: rs1397119638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613681 SCV000718701 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529518 SCV003468488 likely benign Peroxisome biogenesis disorder 9B 2024-02-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274734 SCV001459134 uncertain significance Rhizomelic chondrodysplasia punctata type 1 2020-01-17 no assertion criteria provided clinical testing

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