ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.542+15G>A (rs587599565)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213260 SCV000270970 likely benign not specified 2015-09-30 criteria provided, single submitter clinical testing c.542+15G>A in intron 3 of TSPEAR: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence, an d it is not predicted to impact splicing. It has it has been identified in 0.12 % (9/7686) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org, dbSNP rs587599565).
GenomeConnect, ClinGen RCV000509308 SCV000606917 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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