ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.493-11_493-8del

dbSNP: rs528068364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178875 SCV000231046 likely benign not specified 2014-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000178875 SCV000309559 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000545207 SCV000630171 likely benign Arthrogryposis, distal, type 1A 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000178875 SCV000714968 benign not specified 2017-08-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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