ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.51C>T (p.Gly17=)

gnomAD frequency: 0.00793  dbSNP: rs75351275
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221357 SCV000269930 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Gly17Gly in exon 1 of TSPEAR: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 2.0% (89/4402) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs75351275).
GeneDx RCV000840105 SCV000982021 benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Invitae RCV000840105 SCV001030756 benign not provided 2023-12-22 criteria provided, single submitter clinical testing

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