ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1394G>T (p.Gly465Val)

dbSNP: rs2145900849
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Total submissions: 1
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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 RCV002227890 SCV002507154 likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 2022-05-09 criteria provided, single submitter clinical testing

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