ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.450G>A (p.Glu150=)

gnomAD frequency: 0.00002  dbSNP: rs775425326
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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 RCV002081630 SCV002430632 likely benign Arthrogryposis, distal, type 1A 2022-02-03 criteria provided, single submitter clinical testing

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