ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.714G>A (p.Ala238=)

gnomAD frequency: 0.00090  dbSNP: rs146025689
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Total submissions: 4
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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 RCV000218175 SCV000270971 benign not specified 2017-05-16 criteria provided, single submitter clinical testing p.Ala238Ala in exon 5 of TSPEAR: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.1% (113/10126) of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http:/ /gnomad.broadinstitute.org/; dbSNP rs146025689).
GeneDx RCV000843460 SCV000985495 likely benign not provided 2020-10-28 criteria provided, single submitter clinical testing
Invitae RCV000843460 SCV001045118 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000843460 SCV004146675 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing TSPEAR: BP4, BP7

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