ClinVar Miner

Submissions for variant NM_014208.3(DSPP):c.768C>T (p.Asp256=)

gnomAD frequency: 0.00055  dbSNP: rs374400491
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728074 SCV000855603 uncertain significance not provided 2017-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000728074 SCV001790849 likely benign not provided 2021-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000728074 SCV002426205 benign not provided 2022-07-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000728074 SCV004152891 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing DSPP: BP4, BP7

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