ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.759C>T (p.Ile253=)

gnomAD frequency: 0.00002  dbSNP: rs1057524292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422161 SCV000535098 likely benign not specified 2016-12-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001416634 SCV001618817 likely benign Arthrogryposis, distal, type 1A 2024-05-14 criteria provided, single submitter clinical testing

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