ClinVar Miner

Submissions for variant NM_021828.4(HPSE2):c.1516C>T (p.Arg506Ter) (rs267606866)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000103 SCV000020246 pathogenic Ochoa syndrome 2010-06-11 no assertion criteria provided literature only
GeneReviews RCV000000103 SCV000086987 pathologic Ochoa syndrome 2013-08-22 no assertion criteria provided curation Converted during submission to Pathogenic.

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