ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) (rs138480801)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218316 SCV000269929 benign not specified 2016-01-07 criteria provided, single submitter clinical testing p.Asp639Asn in exon 12 of TSPEAR: This variant is not expected to have clinical significance because it has been identified in 0.5% (214/39556) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs138480801).
GeneDx RCV000844249 SCV000986296 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30046887, 27736875, 34042254, 33144682)
Invitae RCV000844249 SCV001035626 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000844249 SCV001146262 benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001267478 SCV001445659 uncertain significance Inborn genetic diseases 2018-08-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335431 SCV001528581 uncertain significance Deafness, autosomal recessive 98 2018-01-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000721121 SCV000852003 pathogenic Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 2018-11-06 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000844249 SCV001963134 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000844249 SCV001971025 uncertain significance not provided no assertion criteria provided clinical testing

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