ClinVar Miner

Submissions for variant NM_000129.4(F13A1):c.2071C>T (p.Gln691Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004764527 SCV005374022 likely pathogenic Factor XIII, A subunit, deficiency of 2024-09-22 criteria provided, single submitter clinical testing

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