ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.726C>T (p.Ala242=)

gnomAD frequency: 0.00045  dbSNP: rs76414035
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726397 SCV000344377 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000558516 SCV000630175 benign Arthrogryposis, distal, type 1A 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000383876 SCV000721347 likely benign not specified 2018-02-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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