ClinVar Miner

Submissions for variant NM_019616.4(F7):c.213C>G (p.Asp71Glu)

dbSNP: rs761662200
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003269145 SCV003945822 uncertain significance Inborn genetic diseases 2023-03-17 criteria provided, single submitter clinical testing The c.279C>G (p.D93E) alteration is located in exon 3 (coding exon 3) of the F7 gene. This alteration results from a C to G substitution at nucleotide position 279, causing the aspartic acid (D) at amino acid position 93 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245396 SCV002515626 uncertain significance Congenital factor VII deficiency no assertion criteria provided clinical testing

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