ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.130+8G>C

dbSNP: rs1222036777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001415513 SCV001617673 likely benign Peroxisome biogenesis disorder 9B 2023-08-25 criteria provided, single submitter clinical testing

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