ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.126C>T (p.Ile42=)

gnomAD frequency: 0.00006  dbSNP: rs1464741803
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591317 SCV000706434 uncertain significance not provided 2018-05-08 criteria provided, single submitter clinical testing
Invitae RCV001479552 SCV001683854 likely benign Peroxisome biogenesis disorder 9B 2023-12-11 criteria provided, single submitter clinical testing

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