ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)

dbSNP: rs764346452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169000 SCV000220139 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2014-03-02 criteria provided, single submitter literature only
Baylor Genetics RCV003474894 SCV004203898 likely pathogenic Peroxisome biogenesis disorder 9B 2023-09-07 criteria provided, single submitter clinical testing

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