ClinVar Miner

Submissions for variant NM_021828.5(HPSE2):c.429T>A (p.Tyr143Ter)

dbSNP: rs2133951833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002502059 SCV002808903 pathogenic Urofacial syndrome type 1 2021-10-02 criteria provided, single submitter clinical testing
Manchester Centre for Genomic Medicine, The University of Manchester RCV002254040 SCV002525226 pathogenic Ochoa syndrome 2022-06-06 no assertion criteria provided research

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