ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)

dbSNP: rs312262900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496507 SCV002810452 pathogenic Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Carpal tunnel syndrome 2 2021-10-22 criteria provided, single submitter clinical testing
GeneReviews RCV000033886 SCV000057794 not provided Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome no assertion provided literature only
GeneReviews RCV002054552 SCV000086689 not provided Multiple epiphyseal dysplasia no assertion provided literature only

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