ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.399G>A (p.Arg133=)

gnomAD frequency: 0.00002  dbSNP: rs370635046
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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 RCV000877933 SCV001020753 likely benign Arthrogryposis, distal, type 1A 2019-10-25 criteria provided, single submitter clinical testing

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