ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)

dbSNP: rs1057516882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411102 SCV000486374 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2016-05-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567883 SCV005055300 likely pathogenic Peroxisome biogenesis disorder 9B 2023-11-14 criteria provided, single submitter clinical testing

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