ClinVar Miner

Submissions for variant NM_000129.4(F13A1):c.1243G>T (p.Val415Phe)

dbSNP: rs121913070
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017994 SCV000038273 pathogenic Factor XIII, A subunit, deficiency of 1999-01-01 no assertion criteria provided literature only

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