ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) (rs104894158)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000031897 SCV000054521 pathologic Congenital hypomyelinating neuropathy 1, autosomal recessive 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000031897 SCV000038512 pathogenic Congenital hypomyelinating neuropathy 1, autosomal recessive 2007-11-01 no assertion criteria provided literature only

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