ClinVar Miner

Submissions for variant NM_012465.4(TLL2):c.112G>C (p.Glu38Gln)

dbSNP: rs1292893658
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Biomedical Information, Shanghai Children’s Hospital RCV000859977 SCV000920794 uncertain significance Spinal muscular atrophy; Proximal muscle weakness; Tongue fasciculations; Hand tremor; Muscular atrophy; EMG: neuropathic changes; Proximal amyotrophy 2019-02-01 criteria provided, single submitter clinical testing

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