ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1445A>T (p.Asp482Val)

dbSNP: rs2055164276
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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 RCV001250922 SCV001167672 likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 2020-02-03 criteria provided, single submitter clinical testing The variant is considered to be likely pathogenic as it qualifies following criteria of ACMG: PM2,PM5,PP2,PP3 and PP4

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