ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.978T>C (p.Gly326=)

gnomAD frequency: 0.00319  dbSNP: rs78236170
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536301 SCV000630385 benign Welander distal myopathy 2024-01-26 criteria provided, single submitter clinical testing

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