ClinVar Miner

Submissions for variant NM_014208.3(DSPP):c.52-1G>C

dbSNP: rs1057521972
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419635 SCV000525374 likely pathogenic not provided 2019-06-24 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame deletion of a critical region; several missense variants located in the lost exon were listed as DM in HGMD.; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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