ClinVar Miner

Submissions for variant NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)

gnomAD frequency: 0.14530  dbSNP: rs36094464
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891438 SCV000312094 benign DSPP-related condition 2019-12-04 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Eurofins Ntd Llc (ga) RCV000242231 SCV000340641 benign not specified 2016-04-15 criteria provided, single submitter clinical testing
Mendelics RCV000018354 SCV001136749 benign Dentinogenesis imperfecta type 2 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001682709 SCV001156882 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001682709 SCV001898262 benign not provided 2018-12-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15592686, 22521702, 19103209, 16955410, 17026502, 17627120, 14758537, 27884173, 20981092, 22310900, 18797159)
Invitae RCV001682709 SCV002414443 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
OMIM RCV000018354 SCV000038633 pathogenic Dentinogenesis imperfecta type 2 2004-04-01 no assertion criteria provided literature only

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