ClinVar Miner

Submissions for variant NM_000128.4(F11):c.797G>A (p.Ser266Asn)

gnomAD frequency: 0.00081  dbSNP: rs145168351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000923545 SCV001069025 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000923545 SCV001986352 uncertain significance not provided 2019-11-08 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (Sun et al., 2001); This variant is associated with the following publications: (PMID: 20308231, 11418471, 19652879, 9787168, 28609141)
Natera, Inc. RCV001273719 SCV001457101 likely benign Plasma factor XI deficiency 2020-09-16 no assertion criteria provided clinical testing

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