ClinVar Miner

Submissions for variant NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu)

gnomAD frequency: 0.04723  dbSNP: rs959216315
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626301 SCV000746962 benign Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 2020-05-03 criteria provided, single submitter clinical testing
GeneDx RCV001573618 SCV001883217 benign not provided 2019-08-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573618 SCV005303281 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573618 SCV001799776 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573618 SCV001964382 likely benign not provided no assertion criteria provided clinical testing

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