ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.2156G>A (p.Gly719Asp)

dbSNP: rs137852655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223755 SCV002502085 likely pathogenic not provided 2021-07-18 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989283 SCV004805957 pathogenic Multiple epiphyseal dysplasia type 1 2024-03-25 criteria provided, single submitter clinical testing
OMIM RCV000009772 SCV000029993 pathogenic Pseudoachondroplasia, severe 2001-11-22 no assertion criteria provided literature only
GeneReviews RCV000033890 SCV000057798 not provided Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome no assertion provided literature only

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