ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro)

gnomAD frequency: 0.00004  dbSNP: rs150181226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005016291 SCV005653153 likely pathogenic Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7 2024-02-06 criteria provided, single submitter clinical testing
OMIM RCV000024008 SCV000045299 pathogenic Desbuquois dysplasia 1 2011-01-01 no assertion criteria provided literature only

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