ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.357G>A (p.Ala119=)

gnomAD frequency: 0.00006  dbSNP: rs376028030
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633578 SCV000754824 likely benign Arthrogryposis, distal, type 1A 2023-09-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544822 SCV004769278 likely benign TPM2-related disorder 2022-11-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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