ClinVar Miner

Submissions for variant NM_014208.3(DSPP):c.2012G>A (p.Ser671Asn)

gnomAD frequency: 0.00769  dbSNP: rs200839637
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001573017 SCV001473372 benign not provided 2023-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573017 SCV004152897 benign not provided 2022-11-01 criteria provided, single submitter clinical testing DSPP: PP3, BS1, BS2
Ambry Genetics RCV004035540 SCV004859872 likely benign Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001573017 SCV005303244 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573017 SCV001798283 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573017 SCV001970321 likely benign not provided no assertion criteria provided clinical testing

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