ClinVar Miner

Submissions for variant NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg)

dbSNP: rs587777088
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000083280 SCV002053998 pathogenic Lenz-Majewski hyperostosis syndrome criteria provided, single submitter clinical testing
OMIM RCV000083280 SCV000115360 pathogenic Lenz-Majewski hyperostosis syndrome 2014-01-01 no assertion criteria provided literature only
Department of Pediatrics, Division of Pediatric Genetics, Necmettin Erbakan University Faculty of Medicine RCV000083280 SCV004032057 likely pathogenic Lenz-Majewski hyperostosis syndrome no assertion criteria provided clinical testing

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