ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.633G>A (p.Ala211=)

gnomAD frequency: 0.00016  dbSNP: rs199758432
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633579 SCV000754825 likely benign Arthrogryposis, distal, type 1A 2025-01-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705732 SCV005226388 likely benign not provided criteria provided, single submitter not provided

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