ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.241-7C>A

gnomAD frequency: 0.00003  dbSNP: rs759898332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177170 SCV000229003 uncertain significance not provided 2015-01-06 criteria provided, single submitter clinical testing
Invitae RCV001041064 SCV001204658 likely benign Arthrogryposis, distal, type 1A 2022-08-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528942 SCV004104759 uncertain significance TPM2-related disorder 2023-03-16 criteria provided, single submitter clinical testing The TPM2 c.241-7C>A variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0078% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-35685784-G-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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