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,, 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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