ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.947C>G (p.Ala316Gly)

gnomAD frequency: 0.00661  dbSNP: rs116828570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548165 SCV000630383 benign Welander distal myopathy 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV002248764 SCV002520244 likely benign not provided 2021-11-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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