ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.339+2T>C

dbSNP: rs1057517059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409658 SCV000486682 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2016-07-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275036 SCV002563923 pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing

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