ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.564-20_564-19dup

dbSNP: rs3215700
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002220138 SCV002366219 benign Arthrogryposis, distal, type 1A 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498233 SCV002809297 likely benign Arthrogryposis, distal, type 1A; Congenital myopathy 23; Congenital myopathy with fiber type disproportion 2022-04-06 criteria provided, single submitter clinical testing

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