ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.943_945del (p.Asp315del)

dbSNP: rs1553810269
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519571 SCV000621340 likely pathogenic not provided 2020-01-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001249355 SCV001423330 not provided TBL1XR1-related disorder no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 10-31-2017 by Lab or GTR ID 26957. 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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