ClinVar Miner

Submissions for variant NM_000113.3(TOR1A):c.927A>C (p.Lys309Asn)

dbSNP: rs2131001227
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics RCV002262170 SCV002543772 likely benign Early-onset generalized limb-onset dystonia; Arthrogryposis multiplex congenita 5 criteria provided, single submitter clinical testing

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