ClinVar Miner

Submissions for variant NM_001166244.1(HPSE2):c.1291_1292del (p.Asn431fs) (rs397515338)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000000104 SCV000782663 pathogenic Urofacial syndrome 1 2017-05-22 criteria provided, single submitter clinical testing
OMIM RCV000000104 SCV000020247 pathogenic Urofacial syndrome 1 2010-06-11 no assertion criteria provided literature only
GeneReviews RCV000000104 SCV000086986 pathologic Urofacial syndrome 1 2013-08-22 no assertion criteria provided curation Converted during submission to Pathogenic.

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