ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.1034+20T>C

gnomAD frequency: 0.00003  dbSNP: rs754029121
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002140016 SCV002456650 likely benign Welander distal myopathy 2024-12-23 criteria provided, single submitter clinical testing

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