ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.639+16G>A

gnomAD frequency: 0.00001  dbSNP: rs777513303
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002647599 SCV003514697 likely benign Arthrogryposis, distal, type 1A 2024-08-13 criteria provided, single submitter clinical testing

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