ClinVar Miner

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

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Total submissions: 5
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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 2018-08-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000844249 SCV001035626 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000844249 SCV001146262 benign not provided 2019-08-06 criteria provided, single submitter clinical testing
OMIM RCV000721121 SCV000852003 pathogenic ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS 2018-11-06 no assertion criteria provided literature only

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