ClinVar Miner

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

gnomAD frequency: 0.00650  dbSNP: rs72902461
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Total submissions: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000633711 SCV000754978 benign Welander distal myopathy 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001843526 SCV002102721 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001843526 SCV005256995 likely benign not provided criteria provided, single submitter not provided

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