ClinVar Miner

Submissions for variant NM_019616.4(F7):c.1190C>T (p.Thr397Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004791220 SCV005414204 pathogenic not provided 2024-07-18 criteria provided, single submitter clinical testing PM2_moderate, PM3_strong, PS3, PS4_moderate
OMIM RCV000012852 SCV000033092 pathogenic Factor VII deficiency 1996-06-15 no assertion criteria provided literature only

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