ClinVar Miner

Submissions for variant NM_003630.3(PEX3):c.748-4A>G

gnomAD frequency: 0.00001  dbSNP: rs1024883914
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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) RCV000732790 SCV000860776 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000732790 SCV001645641 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing

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