ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.773-9_773-8insCA

dbSNP: rs1554658503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754132 SCV001987120 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Located in a region that tolerates variation and lacks pathogenic variants; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Invitae RCV002032747 SCV002297556 likely benign Arthrogryposis, distal, type 1A 2022-09-01 criteria provided, single submitter clinical testing

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