ClinVar Miner

Submissions for variant NM_000130.4(F5):c.2450A>C (p.Asn817Thr) (rs6018)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000402340 SCV000350985 likely benign Budd-Chiari syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297645 SCV000350986 likely benign Venous thrombosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303392 SCV000350987 likely benign Thrombophilia due to activated protein C resistance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389944 SCV000350988 likely benign Factor V deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303392 SCV000350989 likely benign Thrombophilia due to activated protein C resistance 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000251057 SCV000302415 benign not specified criteria provided, single submitter clinical testing

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