ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter)

dbSNP: rs267606702
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000000306 SCV004806369 uncertain significance Desbuquois dysplasia 1 2024-03-25 criteria provided, single submitter clinical testing
OMIM RCV000000306 SCV000020450 pathogenic Desbuquois dysplasia 1 2009-11-01 no assertion criteria provided literature only

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