ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.1086G>A (p.Pro362=)

gnomAD frequency: 0.00650  dbSNP: rs72902461
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517421 SCV000615812 benign not specified 2017-01-17 criteria provided, single submitter clinical testing
Invitae RCV000633711 SCV000754978 benign Welander distal myopathy 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001843526 SCV002102721 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing

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